Miopatia distal é um grupo de doenças dos músculos que têm como característica principal a perda de força e a diminuição (atrofia) dos músculos, começando nos pés e/ou nas mãos.
Introdução
O que você precisa saber de cara
Miopatia distal é um grupo de doenças dos músculos que têm como característica principal a perda de força e a diminuição (atrofia) dos músculos, começando nos pés e/ou nas mãos.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 87 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 255 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
24 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity)
Cell membrane, sarcolemmaCytoplasmic vesicle membraneCell membraneLate endosome membrane
Muscular dystrophy, limb-girdle, autosomal recessive 2
An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs.
This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin
Cytoplasm, myofibril, sarcomereCytoplasm, cytoskeleton
Nemaline myopathy 2
A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination.
Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1, VCP and
Cytoplasm, cytosolEndoplasmic reticulumNucleusCytoplasm, Stress granule
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis
May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:2871272
Nucleus matrix
Amyotrophic lateral sclerosis 21
A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia.
Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that catalyzes the transport of long-chain fatty acids (LCFA)-CoA, dicarboxylic acids-CoA, long-branched-chain fatty acids-CoA and bile acids from the cytosol to the peroxisome lumen for beta-oxydation (PubMed:11248239, PubMed:24333844, PubMed:25168382, PubMed:29397936). Has fatty acyl-CoA thioesterase and ATPase activities (PubMed:29397936). Probably hydrolyzes fatty acyl-CoAs into free fatty acids pr
Peroxisome membrane
Congenital bile acid synthesis defect 5
An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma.
Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP
Cytoplasm
Myopathy, distal, 5
A form of distal myopathy, a group of muscular disorders characterized by progressive muscular weakness and muscle atrophy beginning in the hands, the legs or the feet. MPD5 is an autosomal recessive form, predominantly affecting the lower limbs.
Plays a role in plasma membrane repair in a process involving annexins (PubMed:33496727). Does not exhibit calcium-activated chloride channel (CaCC) activity
Endoplasmic reticulum membraneCell membrane
Gnathodiaphyseal dysplasia
Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity.
Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and modulation of splice site selection (PubMed:17371836). Plays a role in the splicing of pyruvate kinase PKM by binding repressively to sequences flanking PKM exon 9, inhibiting exon 9 inclusion and resulting in exon 10 inclusion and production of the PKM M2 isoform (PubMed:20010808). Binds to the IRES and thereby inhibits the translation of the apoptosis protease activating
NucleusCytoplasm
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.
RNA-binding protein involved in the regulation of alternative pre-RNA splicing and mRNA translation by binding to uridine-rich (U-rich) RNA sequences (PubMed:11106748, PubMed:12486009, PubMed:17488725, PubMed:8576255). Binds to U-rich sequences immediately downstream from a 5' splice sites in a uridine-rich small nuclear ribonucleoprotein (U snRNP)-dependent fashion, thereby modulating alternative pre-RNA splicing (PubMed:11106748, PubMed:8576255). Preferably binds to the U-rich IAS1 sequence in
NucleusCytoplasmCytoplasm, Stress granule
Welander distal myopathy
An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement.
Plays a role in the regulation of cell shape and polarity (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). Neuroprotective protein, which acts by sequestring GAPDH in the cytosol and prevent the apoptotic function of GAPDH in the nucleus (By similarity). Competes with SIAH1 for binding GAPDH (By similarity). Does not regulate lysosomal morphology and distribution (PubMed:14668488). Binds to RAB10 following LRRK2-med
Cytoplasm, cytosolCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centrioleCytoplasm, cytoskeleton, cilium basal body
Oculopharyngodistal myopathy 4
A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM4 is an autosomal dominant form characterized by slow progression and onset of symptoms in the second or third decades.
Muscle-specific filamin, which plays a central role in sarcomere assembly and organization (PubMed:34405687). Critical for normal myogenesis, it probably functions as a large actin-cross-linking protein with structural functions at the Z lines in muscle cells. May be involved in reorganizing the actin cytoskeleton in response to signaling events (By similarity)
CytoplasmMembraneCytoplasm, cytoskeletonCytoplasm, myofibril, sarcomere, Z line
Myopathy, myofibrillar, 5
A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM5 is characterized by onset in adulthood, clinical features of a limb-girdle myopathy, and focal myofibrillar destruction.
Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells
Cell membrane, sarcolemmaCytoplasm, cytoskeletonCytoplasm, myofibril, sarcomere, Z line
Myopathy, myofibrillar, 3
A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.
Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair
Deafness, X-linked, 4
A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies.
Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to ch
CytoplasmNucleus
Myopathy, myofibrillar, 9, with early respiratory failure
An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial and respiratory muscles. Pelvic girdle weakness, foot drop and neck weakness are the main symptoms at onset, but ultimately the weakness usually involves the proximal compartment of both upper and lower limbs. Additional features include variable degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. Respiratory involvement often leads to requirement for non-invasive ventilation support.
May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton
Cytoplasm, perinuclear regionCell projection, pseudopodiumCytoplasm, cytoskeletonCytoplasm, myofibril, sarcomere, Z line
Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle.
May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. In lens epithelial cells, stabilizes the ATP6V1A protein, preventing its degradation by the proteasome (By similarity)
CytoplasmNucleusSecretedLysosome
Myopathy, myofibrillar, 2A, adult-onset
A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2A is an autosomal dominant form characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, respiratory insufficiency, hypertrophic cardiomyopathy, and cataract.
May be involved in G protein-linked signaling
CytoplasmMembrane
Oculopharyngodistal myopathy 2
A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM2 inheritance pattern is autosomal dominant.
Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor
MembraneMembrane, coated pit
Oculopharyngodistal myopathy 1
A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM1 inheritance pattern is autosomal dominant.
May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae (PubMed:19262564)
Golgi apparatus membraneCell membraneMembrane, caveolaCell membrane, sarcolemma
HyperCKmia
Characterized by persistent elevated levels of serum creatine kinase without muscle weakness.
Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle
Cytoplasm, myofibrilCytoplasm, myofibril, sarcomere
Cardiomyopathy, familial hypertrophic, 1
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29561261, PubMed:29856954, PubMed:29856955). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signal
Secreted
Neuronal intranuclear inclusion disease
An autosomal dominant, slowly progressive, neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous system, and also in the visceral organs. Clinical manifestations are variable and include pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction.
Molecular adapter required for selective macroautophagy (aggrephagy) by acting as a bridge between polyubiquitinated proteins and autophagosomes (PubMed:15340068, PubMed:15953362, PubMed:16286508, PubMed:17580304, PubMed:20168092, PubMed:22017874, PubMed:22622177, PubMed:24128730, PubMed:28404643, PubMed:29343546, PubMed:29507397, PubMed:31857589, PubMed:33509017, PubMed:34471133, PubMed:34893540, PubMed:35831301, PubMed:37306101, PubMed:37802024). Promotes the recruitment of ubiquitinated cargo
Cytoplasmic vesicle, autophagosomePreautophagosomal structureCytoplasm, cytosolNucleus, PML bodyLate endosomeLysosomeNucleusEndoplasmic reticulumCytoplasm, myofibril, sarcomere
Paget disease of bone 3
A disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone.
Medicamentos e terapias
Mecanismo: Glucocorticoid receptor agonist
Variantes genéticas (ClinVar)
3,608 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 5,837 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
70 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Miopatia distal
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
22 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies.
Previous muscle imaging studies of GNE myopathy are limited to the lower extremities. This study aimed to use whole-body MRI to differentiate between GNE myopathy and other young adult-onset hereditary myopathies. This retrospective cohort study recruited patients with GNE myopathy or young adult-onset hereditary with limb girdle weakness pattern followed up in a single-center neuromuscular clinical registry between 2019 and 2023. Fatty tissue replacement was evaluated using a 5-point scale using T1-weighted images (T1WI) and proton-density fat fractions (PDFF) from mDIXON Quant images. Inflammation was evaluated using short tau inversion recovery imaging. The distribution and severity of muscle involvement in GNE myopathy were visualized using heat maps, and the parameters were tested for significance. Of 103 patients, five with GNE myopathy and 10 with young adult-onset hereditary myopathy were recruited. Prominent fatty tissue replacement was seen in specific muscles with subtle active inflammation in GNE myopathy. The comparison of fatty tissue replacement between GNE and other young adult-onset hereditary myopathies exhibited the classic quadriceps sparing pattern in GNE myopathy group. Beyond these findings, latissimus dorsi showed the significantly lower fatty tissue replacement in the GNE group (median [IQR] of T1WI grade 1 [0, 1] vs. 3 [1, 3.4], p = 0.04) and mean (± S.D.) of PDFF in mDIXON Quant (19.0 ± 9.7 vs. 42.6 ± 22.7, p = 0.04). The latissimus dorsi sparing out of proportion to periscapular weakness would be a novel differentiative feature of GNE myopathy.
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy.
We report a family affected with childhood onset distal muscle weakness with a heterozygous chromosome 9q34 deletion encompassing the SPTAN1 gene. The deletion was detected through exome-sequencing based copy number variant (CNV) detection, segregates in four patients and is non-penetrant in two other relatives. Electromyography, muscle MRI and muscle biopsy revealed a myopathic disease phenotype. Cellular consequences of the deletion were investigated using qPCR and western blotting on patient-derived fibroblasts, which revealed a reduction of RNA but not protein levels. Immunocytochemistry was performed on muscle tissue which did not reveal reduction of α-II-spectrin. SPTAN1 loss-of-function variants have previously been reported to cause distal hereditary motor neuropathy and recently distal myopathy. Here, we confirm the role of SPTAN1 haploinsufficiency as a cause of distal myopathy. We propose an age-dependent lack of α-II-spectrin and suggest CNV detection in repurposed exome sequencing as an important diagnostic tool.
Multi-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study.
Myofibrillar myopathies (MFM) form a large group of clinically and genetically heterogeneous protein aggregate diseases. We investigated whether a novel quantitative MRI protocol can reveal new aspects of structural and biochemical muscle pathology in three classic MFM subtypes. MRI of the lower legs was performed in nine MFM patients with filamin-C (FLNC; n = 5), desmin (DES, n = 2) and LIM domain binding 3 (LDB3; n = 2) gene mutations, one patient with non-MFM, filamin-C related distal myopathy (4 males, 6 females, 51.0 ± 7.7 years) and 10 age-matched healthy control subjects (5 males, 5 females, 50.0 ± 11.0 years). 1H MRI at 3 T addressed fatty replacement and edema-like changes as well as quantitative measurements of proton density fat fraction (PDFF) and water T2 relaxation times. 39K/23Na MRI at 7 T was employed to determine apparent tissue potassium and tissue sodium concentrations (aTPC/aTSC). T1-weighted and T2-weighted STIR imaging showed the highest degree of fat replacement in the soleus and gastrocnemius medialis muscle regions and the highest degree of edema-like changes in the extensor regions in all 10 myopathy patients. The lowest degree of fat replacement and edema-like changes was present in the gastrocnemius lateralis muscles. Marked fatty replacement of peroneus muscles was also present in DES-related MFM and FLNC-related distal myopathy. Muscular PDFF values were significantly increased in all MFM patients (p = 0.003 - < 0.001) with 60 and 35 of 63 muscles analysed showing increased mean PDFF (> 10% and > 50%). When excluding the muscles with PDFF > 50%, the median water T2 was significantly increased in all muscle regions of MFM patients with the exception of the tibialis anterior and posterior muscles. Fat-corrected aTSC values in MFM patients were significantly increased compared to healthy controls (55.6 ± 16.3 mM vs. 23.2 ± 5.5 mM, p < 0.001) in all muscles but peroneus muscles, whereas fat-corrected aTPC values were reduced in all muscles except for gastrocnemius lateralis, tibialis posterior and peroneus muscles (75.4 ± 13.3 mM vs. 108.9 ± 9.9 mM, p < 0.001). Quantitative PDFF measurements and water T2 mapping serve as valuable tools to objectively quantify fat and edema-like changes in MFM. Furthermore, changes in potassium/sodium ion balance in the lower leg muscles of MFM patients could serve as new markers to quantify the extent of biochemical changes in individual muscle regions. Further longitudinal evaluation is required to validate whether they are sensitive to changes prior to a high degree of fat replacement.
Anaesthetic Management of a Patient With LDB3-Associated Myopathy Undergoing Prostate Biopsy Under Total Intravenous Anaesthesia: A Case Report.
Mutations in the LDB3 gene are implicated in myofibrillar myopathy and cardiomyopathy. Consider cardiac conduction defects and the muscle's sensitivity to some anaesthetics when providing anaesthesia in the perioperative period. We present the anaesthetic management of a 76-year-old man with genetically confirmed LDB3 mutation who presented for prostate biopsy with a background of progressive distal myopathy, mild cardiac involvement, and normal activities of daily living (ADL), undergoing anaesthesia using total intravenous anaesthesia (TIVA) to avoid the use of volatile agents or neuromuscular blockers. In this patient with a history of LDB3-associated myopathy, the use of TIVA provided a safe and effective technique of anaesthesia, and reinforced the need for an individualised anaesthetic strategy in neuromuscular disease (NMD).
The Welander TIA1 mutation dedifferentiates insulin-producing cells - reversal by a GLP-1 receptor agonist.
The RNA-binding proteins TIAR and TIA1 have been reported to affect beta cell insulin production and viability. The missense E384K TIA1 autosomal dominant mutation is known to cause Welander distal myopathy. The aim of this study was to study the effects of the TIA1 E384K mutation in human insulin-producing EndoC-βH1 cells. The prime editing technique was used to generate EndoC-βH1 cell clones with the homozygous E384K TIA1 mutation. The E384K TIA1 mutation did not affect high glucose + palmitate-induced stress granule formation and cell death. Instead, the mutated cells respired and proliferated faster than wild-type cells. This was paralleled by a higher MYC mRNA and protein level, a profoundly reduced GLP-1 receptor mRNA expression, increased expression of "disallowed" beta cell genes, a proinsulin-to-insulin processing defect, a decreased insulin content and release, a decreased PAX4/ARX mRNA ratio, and an increased glucagon production. The TIA1 mutation reduced MYC mRNA binding to TIA1. Downregulation of MYC mRNA levels normalized insulin/glucagon and PAX4/ARX mRNA ratios. Long-term treatment of TIA1-mutated cells with the GLP-1R agonist liraglutide restored insulin production and reversed beta cell dedifferentiation. It is concluded that the TIA1 E384K mutation, via increased MYC levels and cell proliferation rates, causes beta cell dedifferentiation. Thus, dysfunction of RNA-binding proteins may, at least in certain cases, contribute to the impaired insulin production observed in diabetes. A better understanding of RNA-binding protein-mediated control of beta cell differentiation, and the protective impact of GLP-1 receptor agonism, could facilitate the development of new treatment strategies in diabetes.
Publicações recentes
Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases.
Phenotypic characterization of dominantly inherited distal nebulin myopathy.
🥈 ObservacionalMulti-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study.
Anaesthetic Management of a Patient With LDB3-Associated Myopathy Undergoing Prostate Biopsy Under Total Intravenous Anaesthesia: A Case Report.
The Welander TIA1 mutation dedifferentiates insulin-producing cells: Reversal by a GLP-1 receptor agonist.
📖 Revisão📚 EuropePMC349 artigos no totalmostrando 198
Multi-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study.
Journal of cachexia, sarcopenia and muscleAnaesthetic Management of a Patient With LDB3-Associated Myopathy Undergoing Prostate Biopsy Under Total Intravenous Anaesthesia: A Case Report.
CureusThe Welander TIA1 mutation dedifferentiates insulin-producing cells - reversal by a GLP-1 receptor agonist.
The Journal of biological chemistryDYSF gene variant spectrum in Arab populations across eight countries: A systematic review.
Biomolecules & biomedicineComparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies.
PloS oneHydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance.
Molecular medicine (Cambridge, Mass.)Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe.
European journal of neurologyClinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study.
BMC musculoskeletal disordersNovel missense variants associated with GNE myopathy.
Neuromuscular disorders : NMDWelander Distal Myopathy-Associated TIA1 E384K Mutation Disrupts Stress Granule Dynamics Under Distinct Stress Conditions.
BiologyA heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy.
European journal of human genetics : EJHG[The pleiotropic role of X-linked SMPX gene mutations: Exploration of mechanism from deafness to myopathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsRare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMolecular genetics and therapeutic development for GNE myopathy.
Journal of human geneticsA recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series.
Journal of medical case reportsKLHL9-linked distal myopathy: a second family suggesting broad phenotypic variability.
Neuromuscular disorders : NMDWelander distal myopathy-associated TIA1 mutation exacerbates P-body and stress granule dynamics concomitant with nucleolar stress under oxidative stress.
Genes & diseasesTips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.
Methods in molecular biology (Clifton, N.J.)Unexpected SLC34A3 rickets in a case of suspected distal myopathy.
Pediatric nephrology (Berlin, Germany)ZASP/LDB3-related atypical distal myopathy with subtle cardiac impairment unveiled after COVID-19 infection: a short report.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyAdult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.
Journal of neuromuscular diseasesStructural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
European journal of human genetics : EJHGMyofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India.
Journal of clinical neuromuscular diseaseLong term clinical follow-up and natural history in a cohort of Italian patients with GNE myopathy: the experience of a single centre.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyAutosomal dominant distal myopathy due to p.Ser85Cys mutation in the MATR3 gene: Novel case series and literature review.
Revue neurologiqueComputational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.
BMC genomic dataAn Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Human mutationEstimating the Prevalence of GNE Myopathy Using Population Genetic Databases.
Human mutationAnalysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.
Orphanet journal of rare diseasesThe MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation.
Life science allianceProspective Dysphagia Assessment in Adult Patients With Nephropathic Cystinosis.
Muscle & nerveA Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness.
CureusBeyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy.
Molecular genetics and metabolismHeterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
Genetics in medicine : official journal of the American College of Medical GeneticsNutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study.
Journal of neuromuscular diseasesUltra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.
Journal of neuromuscular diseasesTTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.
Neurology. GeneticsStructural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
medRxiv : the preprint server for health sciencesClinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Journal of neurologyMyotilin gene duplication causing late-onset myotilinopathy.
European journal of neurology[Aceneuraminic acid for distal myopathy].
Nihon yakurigaku zasshi. Folia pharmacologica JaponicaThe frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin.
Frontiers in geneticsHeterozygous p62/SQSTM1 mutation and right temporal variant of frontotemporal dementia: Α case report.
NeurocaseCalcium level and autophagy defect in GNE mutants of rare neuromuscular disorder.
Cell biology internationalDecoding the Molecular Grammar of TIA1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy Under Oxidative Stress.
CellsA pilot trial for efficacy confirmation of 6'-sialyllactose supplementation in GNE myopathy: Randomized, placebo-controlled trial.
Molecular genetics and metabolismA Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders-Clinicohistologic Findings and Review of the Literature.
Journal of clinical neuromuscular diseaseVariability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.
Molecular genetics & genomic medicineMYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Journal of neurology, neurosurgery, and psychiatryPreserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset.
Internal medicine (Tokyo, Japan)Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
medRxiv : the preprint server for health sciencesNovel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.
Journal of medical geneticsCGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy.
Neurology. GeneticsGenomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Orphanet journal of rare diseasesGNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.
Journal of neuromuscular diseases[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients].
Revista de neurologiaAsymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series.
Frontiers in geneticsDiverse Phenotypic Presentation of the Welander Distal Myopathy Founder Mutation, With Myopathy and Amyotrophic Lateral Sclerosis in the Same Family.
Journal of clinical neuromuscular diseaseDefining the landscape of TIA1 and SQSTM1 digenic myopathy.
Neuromuscular disorders : NMDProtein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Annals of clinical and translational neurologyA novel variant in the GNE gene in a Malian patient presenting with distal myopathy.
NeurogeneticsGeneration of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant.
Stem cell researchCurrent advance on distal myopathy genetics.
Current opinion in neurologyA rare form of LIM domain-binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4.
Clinical geneticsA novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.
GeneLimb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.
International journal of molecular sciencesInduced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment.
Journal of neuromuscular diseasesAltered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy.
Experimental cell researchLarge phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.
Journal of neurologyA therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions.
The Journal of clinical investigationA Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity.
The Journal of clinical investigationRecessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.
GenesAxial involvement as a prominent feature in SMPX-related distal myopathy.
Neuromuscular disorders : NMDPotential small effector molecules restoring cellular defects due to sialic acid biosynthetic enzyme deficiency: Pathological relevance to GNE myopathy.
Biochemical pharmacologyPseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
Muscle & nerveThe Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.
BiomoleculesResilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).
Orphanet journal of rare diseasesSkeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyUnderstanding pathophysiology of GNE myopathy and current progress towards drug development.
Journal of biosciencesHaplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Scientific reportsDolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T.
CureusMyofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene.
International journal of rheumatic diseasesGrowth deficiency and enhanced basal immunity in Arabidopsis thaliana mutants of EDM2, EDM3 and IBM2 are genetically interlinked.
PloS oneRare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
medRxiv : the preprint server for health sciencesHigh Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil.
Current genomicsChildhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.
Neurology. GeneticsGNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation.
GlycobiologyA case series of patients with filamin-C truncating variants attending a specialized cardiac genetic clinic.
European heart journal. Case reportsThe new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Brain : a journal of neurologyEvaluation of N-Acetylmannosamine Administration to Restore Sialylation in GNE-Deficient Human Embryonal Kidney Cells.
Frontiers in bioscience (Landmark edition)Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Neuromuscular disorders : NMDTitin copy number variations associated with dominant inherited phenotypes.
Journal of medical geneticsPharmacokinetics and clinical efficacy of 6'-sialyllactose in patients with GNE myopathy: Randomized pilot trial.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie[Efficacy of Aceneuramic Acid for Distal Myopathy with Rimmed Vacuoles].
Brain and nerve = Shinkei kenkyu no shinpoDysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.
Neuromuscular disorders : NMDMATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy.
Cell reportsGNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?
Neuromuscular disorders : NMDLate-onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families: Presenting clinical features in an often-misdiagnosed disorder.
Muscle & nerveEfficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.
Orphanet journal of rare diseasesA novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Clinical geneticsHypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy.
GenesDevelopment of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.
Journal of neuromuscular diseasesAberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders.
Journal of human geneticsThe Arabidopsis RRM domain proteins EDM3 and IBM2 coordinate the floral transition and basal immune responses.
The Plant journal : for cell and molecular biologyMetformin protects fibroblasts from patients with GNE myopathy by restoring autophagic flux via an AMPK/mTOR-independent pathway.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieClinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.
Frontiers in neurologyCaveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
European journal of neurologyA novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report.
BMC neurologyPhase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.
Journal of neuromuscular diseasesDES c.1360C>T: A Rare Desmin Variant Causing Early Distal Myopathy and Cardiomyopathy.
CureusAutophagic vacuolar myopathy involving the phenotype of spinocerebellar ataxia type 3.
Neuropathology : official journal of the Japanese Society of NeuropathologyC-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Acta neuropathologicaFrameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report.
Frontiers in neurologyGlycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE).
BiomoleculesMyofibrillar myopathy presenting with an inclusion body myositis-like phenotype.
Muscle & nerveZinc Alters the Supramolecular Organization of Nucleic Acid Complexes with Full-Length TIA1.
bioRxiv : the preprint server for biologyMATR3 P154S knock-in mice do not exhibit motor, muscle or neuropathologic features of ALS.
Biochemical and biophysical research communicationsMiyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.
GenesA novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Neuromuscular disorders : NMDMultidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.
Scientific reportsDistinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
Acta neuropathologicaMiyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene.
Child neurology openMorpholino-Mediated Exons 28-29 Skipping of Dysferlin and Characterization of Multiexon-skipped Dysferlin using RT-PCR, Immunoblotting, and Membrane Wounding Assay.
Methods in molecular biology (Clifton, N.J.)Genetic and Clinical Spectrum of GNE Myopathy in Russia.
GenesDistal upper limb involvement in myasthenia-myositis association.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyAnoctamin 5 (ANO5) Muscle Disorders: A Narrative Review.
Genes[A Case of Hirayama Disease Presenting Horn Hand: Spinal Horn Hand].
Brain and nerve = Shinkei kenkyu no shinpoMutation update for the ACTN2 gene.
Human mutationALS mutations in the TIA-1 prion-like domain trigger highly condensed pathogenic structures.
Proceedings of the National Academy of Sciences of the United States of AmericaMyogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy.
NPJ Regenerative medicineExpanded clinical spectrum of oculopharyngodistal myopathy type 1.
Muscle & nerveRecurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report.
BMC pediatricsDysferlinopathies: Clinical and genetic variability.
Clinical geneticsA Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.
International journal of molecular sciencesSynthesis of 2-Acetamido-1,3,4-Tri-O-Acetyl-2-Deoxy-D-Mannopyranose -6-Phosphate Prodrugs as Potential Therapeutic Agents.
Current protocolsA novel nonsense mutation in the dimerization domain of FLNC causing mild myofibrillar myopathy.
Clinical neurology and neurosurgeryRecent advances in establishing a cure for GNE myopathy.
Current opinion in neurologyGlycogen accumulation in GNE myopathy.
Neuromuscular disorders : NMDThe role of amyloid β in the pathological mechanism of GNE myopathy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyCase Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes.
Frontiers in neurologyCase Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient.
Frontiers in geneticsExpanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation.
Neurology. GeneticsRole of HSP70 chaperone in protein aggregate phenomenon of GNE mutant cells: Therapeutic lead for GNE Myopathy.
The international journal of biochemistry & cell biologyA 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.
Neuromuscular disorders : NMDDNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy.
Clinical neuropathologyLongitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile.
Muscle & nerveDifferent electrophysiology patterns in GNE myopathy.
Orphanet journal of rare diseasesA novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy.
Neuromuscular disorders : NMDTissue-specific isoform expression of GNE gene in human tissues.
Journal of muscle research and cell motilityGene analysis and clinical features of 22 GNE myopathy patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyThe Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.
Frontiers in cell and developmental biologyFunctional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder.
BiochimieInvolvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
European journal of translational myologyDynamics of T-Cell Intracellular Antigen 1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy under Oxidative Stress.
CellsMolecular determinants and modifiers of Matrin-3 toxicity, condensate dynamics, and droplet morphology.
iScienceUpper body involvement in GNE myopathy assessed by muscle imaging.
Neuromuscular disorders : NMDMultiple isogenic GNE-myopathy modeling with mutation specific phenotypes from human pluripotent stem cells by base editors.
BiomaterialsCalpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos.
CureusA female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy.
Journal of human geneticsClinical, genetic, and pathological characterization of GNE myopathy in China.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyA rare case of distal myopathy.
Indian journal of pathology & microbiologyMuscle "islands": An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness.
Neuromuscular disorders : NMDMyopathy-associated G154S mutation causes important changes in the conformational stability, amyloidogenic properties, and chaperone-like activity of human αB-crystallin.
Biophysical chemistryA case report of deglutition triggered atrial fibrillation in a patient with Laing distal myopathy.
European heart journal. Case reportsNeuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: A cross-sectional analysis of 55 patients.
Journal of inherited metabolic diseaseExtra-muscular manifestations in GNE myopathy patients: A nationwide repository questionnaire survey in Japan.
Clinical neurology and neurosurgeryDifferent K+-release in distal myogenic and neurogenic muscular weakness during non-ischemic exercise.
Journal of the neurological sciencesDominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.
Neurology. GeneticsExpanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.
Journal of cellular and molecular medicineFirst Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease.
Frontiers in neurologyClinicopathological features of titinopathy from a Chinese neuromuscular center.
Neuropathology : official journal of the Japanese Society of NeuropathologyVisualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches.
Journal of neuromuscular diseasesOut-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.
Neurology. GeneticsThigh and Leg Muscle MRI Findings in GNE Myopathy.
Journal of neuromuscular diseasesA novel TTN variant in a patient with distal myopathy of lower limbs and dilated cardiomyopathy.
NeurologiaCybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001).
Orphanet journal of rare diseasesA novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores.
CNS neuroscience & therapeuticsFunctional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation.
Molecular therapy. Methods & clinical developmentMYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.
Neuromuscular disorders : NMDClinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
JAMA neurologyMissense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Acta neuropathologicaCongenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.
Neuromuscular disorders : NMDA novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.
Journal of human geneticsNeuromuscular disease: 2021 update.
Free neuropathologyResults from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy.
Journal of neuromuscular diseasesPanorama of the distal myopathies.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyLate-onset myopathies: clinical features and diagnosis.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyMatrin 3 in neuromuscular disease: physiology and pathophysiology.
JCI insightMutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Journal of neuromuscular diseasesImpaired Autophagy in Retinal Pigment Epithelial Cells Induced from iPS Cell of Distal Myopathy with Rimmed Vacuole Patient.
The Tokai journal of experimental and clinical medicineClinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.
Orphanet journal of rare diseasesSkeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy.
NeurologyGNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy.
Journal of clinical neuromuscular diseaseEarly and consistent pattern of proximal weakness in GNE myopathy.
Muscle & nerveRyanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Skeletal muscleA study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.
European journal of neurologyMotor axonal neuropathy associated with GNE mutations.
Muscle & nerveExpanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.
Frontiers in neurologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Miopatia distal.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Miopatia distal
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies.
- A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy.
- Multi-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study.
- Anaesthetic Management of a Patient With LDB3-Associated Myopathy Undergoing Prostate Biopsy Under Total Intravenous Anaesthesia: A Case Report.
- The Welander TIA1 mutation dedifferentiates insulin-producing cells - reversal by a GLP-1 receptor agonist.
- Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases.
- Phenotypic characterization of dominantly inherited distal nebulin myopathy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:599(Orphanet)
- MONDO:0018949(MONDO)
- GARD:18699(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q5282843(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
