A miopatia nemalínica (NM) abrange um amplo espectro de miopatias caracterizadas por hipotonia, fraqueza e reflexos tendinosos profundos deprimidos ou ausentes, com evidência patológica de corpos nemalínicos (bastonetes) na biópsia muscular.
Introdução
O que você precisa saber de cara
A miopatia nemalínica (NM) abrange um amplo espectro de miopatias caracterizadas por hipotonia, fraqueza e reflexos tendinosos profundos deprimidos ou ausentes, com evidência patológica de corpos nemalínicos (bastonetes) na biópsia muscular.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 71 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 192 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
11 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574)
CytoplasmCytoplasm, myofibril, sarcomere, M lineCytoplasm, myofibril, sarcomere, A bandCytoplasm, cytoskeleton
Nemaline myopathy 10
An autosomal recessive severe 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. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy.
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.
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
Cytoplasm, cytoskeleton
Congenital myopathy 2A, typical, autosomal dominant
A muscular disorder characterized by generalized muscle weakness, delayed motor milestones, hypotonia, and muscle fiber abnormalities on histologic examination. Histologic findings include abnormal thread- or rod-like structures (nemaline rods), intranuclear rods, clumped filaments, cores, or fiber-type disproportion. The spectrum of clinical phenotypes ranges from severe neonatal presentations to onset of a milder disorder in childhood.
Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization
Cytoplasm, cytoskeleton
Congenital myopathy 23
An autosomal dominant muscular disorder characterized clinically by hypotonia and muscle weakness, and a static or slowly progressive clinical course. Disease onset ranges from birth to childhood. Histologic examination of muscle fibers shows various anomalies including fiber type disproportion, an irregular myofibrillar network, abnormal thread-like or rod-shaped structures, and cap-like structures which are well demarcated and peripherally located under the sarcolemma with abnormal accumulation of sarcomeric proteins.
Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments
Cytoplasm, cytoskeleton
Congenital myopathy 4A, autosomal dominant
A muscular disorder characterized by onset of muscle weakness in infancy or childhood. Most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Many patients have respiratory insufficiency with reduced vital capacity. Skeletal muscle biopsy shows nemaline rod inclusions, subsarcolemmal 'cap' structures, and fiber-type disproportion.
Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines
CytoplasmNucleusCytoplasm, myofibril, sarcomereCytoplasm, myofibril, sarcomere, Z line
Congenital myopathy 24
An autosomal recessive muscular disorder characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure. Muscle biopsy shows nemaline bodies.
Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells
CytoplasmCytoplasm, cytoskeletonCell projection, pseudopodiumCell projection, ruffleCytoplasm, myofibril, sarcomere, M lineSarcoplasmic reticulum membraneEndoplasmic reticulum membrane
Nemaline myopathy 9
An autosomal recessive 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. NEM9 phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood.
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LM
CytoplasmCytoplasm, myofibril, sarcomere, A bandCytoplasm, myofibril, sarcomere, I band
Nemaline myopathy 8
A severe 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. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils.
Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3 (PubMed:19752190). It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity)
Nucleus matrixCytoplasm, cytoskeleton
Nemaline myopathy 7
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. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved.
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex
Cytoplasm
Nemaline myopathy 6
A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over.
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity
Nemaline myopathy 5A, autosomal recessive, severe infantile
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. NEM5A is a severe and progressive form characterized by symptom onset soon after birth or in early infancy. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year.
Variantes genéticas (ClinVar)
2,848 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 13,513 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
8 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 nemalínica
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Outros ensaios clínicos
13 ensaios clínicos encontrados, 9 ativos.
Publicações mais relevantes
Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy.
Monoclonal gammopathy-associated myopathies (MGAMs) include light chain (AL) amyloid myopathy, sporadic late-onset nemaline myopathy (SLONM), and vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS). These subtypes usually occur separately, although rare overlap has been described. We report a patient with monoclonal gammopathy and concurrent SLONM and excessive glycogen accumulation, resembling VAMMGAS but with distinct features. Case report with clinical, electrophysiological, pathological, and therapeutic characterization of a patient with IgG-kappa monoclonal gammopathy and coexisting SLONM and glycogen accumulation within muscle fibers. A 69-year-old man developed subacute progressive axial and limb weakness, head drop, dysphagia, and weight loss. Examination showed proximal/distal weakness, neck extensor weakness, and lumbar hyperlordosis. EMG revealed myopathic motor unit potentials without electrical myotonia or complex repetitive discharges. Serum studies identified IgG-kappa monoclonal protein with elevated kappa light chain and ratio. Muscle biopsy demonstrated nemaline rods (1% of fibers) and scattered fibers with non-rimmed vacuoles (0.3% of fibers) containing PAS-positive, diastase-labile material consistent with concurrent SLONM and glycogen storage myopathy-like pathology. Genetic testing for congenital nemaline and glycogen storage myopathies was negative. Plasma-cell directed therapy with daratumumab, lenalidomide, and dexamethasone led to rapid functional improvement and M-protein reduction. Further gains followed autologous stem cell transplantation. This case expands the MGAM spectrum, highlighting co-occurrence of SLONM and an excessive glycogen accumulation responsive to immunotherapy and transplantation. These findings suggest a spectrum of related disease processes. Recognition of this combined pathology is clinically important, as affected patients may benefit from targeted immunotherapy or stem cell transplantation.
The Diagnosis of Acquired, Late-Onset Nemaline Myopathy Should Not Be Made Before Primary Nemaline Myopathy Has Been Excluded.
Sporadic Late-Onset Nemaline Myopathy Presenting with Dropped Head Syndrome and Complicated with Sjögren's Syndrome: A Case Report.
Sporadic late-onset nemaline myopathy (SLONM) is a rare neuromuscular disorder often associated with monoclonal gammopathy of undetermined significance (MGUS). However, reports of SLONM without MGUS are limited, particularly in cases complicated by Sjögren's syndrome. We herein report the case of a 62-year-old woman with SLONM without MGUS, associated with Sjögren's syndrome. The patient presented with dropped head syndrome (DHS). A muscle biopsy confirmed SLONM, and Sjögren's syndrome was diagnosed. Treatment with intravenous immunoglobulin (IVIg) and corticosteroids improved her muscle strength. This case highlights the importance of considering SLONM in the differential diagnosis when dropped head is the predominant clinical presentation.
Monoclonal Gammopathy - the common denominator of sporadic late-onset nemaline myopathy and paraproteinemic neuropathy.
Sporadic late-onset nemaline myopathy (SLONM) is an acquired adult-onset myopathy characterized by subacute proximal weakness and nemaline rods in muscle. Although SLONM frequently occurs with monoclonal gammopathy of undetermined significance (MGUS), the coexistence with other MGUS-related disorders has not been reported. We describe three patients with SLONM and paraproteinemic neuropathy, showing sensory involvement and variable motor deficits, from mild non-progressive disease to a severe form with bulbar complications. Muscle histology revealed a significant number of fibres with nemaline rods and also frequent mitochondrial abnormalities, while nerve pathology demonstrated granular endoneurial deposits consistent with immune-complex-mediated neuropathy. One untreated patient remained stable, whereas the other two progressive, immunosuppressive-refractory cases improved with anti-plasma cell therapy. These cases illustrate a previously unreported co-occurrence of SLONM and MGUS-associated neuropathy. Despite differing clinical courses, shared pathology suggests common mechanisms, with mitochondrial abnormalities as a possibly under-recognized feature. Muscle and nerve biopsy including electronmicroscopic analysis is crucial for accurate diagnosis, and clone-directed therapy may provide benefit.
Sporadic late-onset nemaline myopathy (SLONM): Data from a case series and literature review of 144 patients.
Sporadic Late-Onset Nemaline Myopathy (SLONM) is an acquired myopathy presenting in adulthood with progressive proximal and axial muscle weakness. A substantial proportion of cases are associated with monoclonal gammopathy of undetermined significance (MGUS), referred to as SLONM-MGUS, suggesting a potential immune-mediated pathogenesis. Although the presence of MGUS has clinical and therapeutic implications, its exact role in disease severity and progression remains unclear. We aimed to characterize clinical, pathological, and prognostic differences between SLONM-MGUS and SLONM without MGUS (SLONM-noMGUS). We conducted a systematic review of SLONM case series published over the past 25 years, supplemented by a single-center case series of five additional patients from our institution (Sant'Andrea Hospital, Rome). Eligible subjects included adult patients diagnosed with SLONM based on clinical features and muscle biopsy demonstrating nemaline rods. Data on demographics, laboratory parameters, histopathological findings, treatments and outcomes were extracted and compared between SLONM-MGUS and SLONM-noMGUS cohorts. Of the 144 patients analyzed, 47 % were classified as SLONM-MGUS. These patients exhibited more severe clinical manifestations, including increased respiratory involvement (p = 0.006). Histopathologically, SLONM-MGUS revealed more prominent nemaline rods (p = 0.032), often accompanied by cytoplasmic bodies and lobulated fibers, and frequently required repeat muscle biopsies for diagnosis (p = 0.0285). Inflammatory infiltrates were less frequent in SLONM-MGUS (p = 0.0176). Functional outcomes were significantly worse in this group, with reduced likelihood of full recovery (p = 0.013) and higher rates of non-ambulatory status (p = 0.01). Patients receiving dual or more treatment regimens, particularly those including IVIg and/or autologous stem cell transplantation (ASCT), had more favorable outcomes. These findings indicate that SLONM-MGUS represents a more severe phenotype of SLONM with distinct clinico-pathological features and poorer prognosis. Notably, combined treatment regimens, including IVIg and/or ASCT, were associated with improved outcomes, highlighting the importance of early recognition and aggressive therapeutic strategies in selected patients.
Publicações recentes
Nemaline Myopathy Associated with a NEB Splice-Site Variant: A Rare Case.
Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy.
Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review.
Sporadic Late-Onset Nemaline Myopathy Presenting with Dropped Head Syndrome and Complicated with Sjögren's Syndrome: A Case Report.
The Diagnosis of Acquired, Late-Onset Nemaline Myopathy Should Not Be Made Before Primary Nemaline Myopathy Has Been Excluded.
📚 EuropePMC612 artigos no totalmostrando 196
Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy.
European journal of neurologyMyopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review.
CureusSporadic Late-Onset Nemaline Myopathy Presenting with Dropped Head Syndrome and Complicated with Sjögren's Syndrome: A Case Report.
Internal medicine (Tokyo, Japan)The Diagnosis of Acquired, Late-Onset Nemaline Myopathy Should Not Be Made Before Primary Nemaline Myopathy Has Been Excluded.
Neurology IndiaMonoclonal Gammopathy - the common denominator of sporadic late-onset nemaline myopathy and paraproteinemic neuropathy.
Neuromuscular disorders : NMDSporadic Late-Onset Nemaline Myopathy Associated with Multiple Myeloma: A Case Report.
Internal medicine (Tokyo, Japan)Sporadic late-onset nemaline myopathy (SLONM): Data from a case series and literature review of 144 patients.
Autoimmunity reviewsSporadic late-onset nemaline myopathy with cardiomyopathy presenting as advanced heart failure despite autologous stem cell transplantation: a case report.
European heart journal. Case reportsCARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation.
MedicineProteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.
Frontiers in neurologyMonoclonal Gammopathy of Clinical Significance-Associated Glycogen Storage Myopathy: A Novel Acquired Muscle Disease.
CureusThe D2.B10-Dmdmdx/J Mouse Model of Duchenne Muscular Dystrophy Exhibits a Severe Mitochondrial Deficiency Not Observed in the C57BL/10ScSn-Dmdmdx/J Mouse.
The American journal of pathologyGene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study.
Therapeutic advances in rare diseaseClinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies.
NeurologyParents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study.
Nursing reports (Pavia, Italy)[Sporadic Late Onset Nemaline Myopathy].
Brain and nerve = Shinkei kenkyu no shinpoRetrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
Neurology. GeneticsMuscle MRI Changes in Nebulin-Related Nemaline Myopathy.
Muscle & nerveNovel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.
Human molecular geneticsLike father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype.
Neuromuscular disorders : NMDPotential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model.
The FEBS journalTracheal Complications Following Prolonged Invasive Ventilation in Tracheostomized Pediatric Patients with Complex Chronic Conditions.
Children (Basel, Switzerland)An HTLV-1 carrier with sporadic late-onset nemaline myopathy accompanied by skin lesions indicating indolent adult T-cell leukemia/lymphoma and Sjögren's syndrome: a case report and literature review.
Neuromuscular disorders : NMDKLHL41 orchestrates sarcomere assembly and size to drive skeletal muscle hypertrophy in vivo.
bioRxiv : the preprint server for biologyLinking altered structure and post-translational modification of Troponin T to dystonia in nemaline myopathies.
The Journal of physiologyA systematic review on motor outcome measures in congenital myopathy.
Neuromuscular disorders : NMDA homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.
Journal of neuromuscular diseasesMonoclonal Gammopathy of Undetermined Significance with Associated Necrotizing Myopathy: A Case Report and Review of the Literature.
European journal of case reports in internal medicinePathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility.
The Journal of physiologyIntegrated single-cell functional-proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof-of-principle study.
The Journal of physiologySporadic late onset nemaline myopathy responsive to plasma exchanges discovered during a Graft-versus-host disease.
Neuromuscular disorders : NMDAn Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Human mutationGeneration of an induced pluripotent stem cell line (NCHi023-A) from a 41-year-old male with nemaline myopathy carrying autosomal dominant ACTA1 c.809-10C>A mutation.
Stem cell researchGeneration of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion.
Skeletal muscleA Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness.
CureusPrevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature.
Journal of neuromuscular diseasesIron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies.
International journal of molecular sciencesNutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study.
Journal of neuromuscular diseasesHuman skeletal muscle fiber heterogeneity beyond myosin heavy chains.
Nature communicationsA Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.
Molecular syndromologyNemaline bodies are not always congenital: A case of sporadic late-onset nemaline myopathy (SLONM) with monoclonal gammopathy of undetermined significance (MGUS).
Pathology internationalAn unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.
La Tunisie medicaleNeonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.
Neurology. GeneticsSporadic Late-Onset Nemaline Rod Myopathy: An Interesting Case.
Neurology India[Genetic analysis of a patient with Rod-shaped myopathy due to variants of NEB gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsNemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients.
Neurology. GeneticsMy second life with mechanical ventilation: A golden anniversary.
Neuromuscular disorders : NMDLate-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods?
BMJ neurology openIn a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.
Molecular genetics & genomic medicineNemaline myopathy with scoliosis: a case report.
Frontiers in pediatricsLate-onset primary muscle diseases mimicking sarcopenia.
Geriatrics & gerontology internationalTuning the idling molecular motor in muscle to treat nemaline myopathy.
The Journal of physiologyMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report.
Journal of medical case reportsA Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.
Journal of neuromuscular diseasesMyosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle.
The Journal of physiologyA cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.
Neuromuscular disorders : NMDNemaline Myopathy With a Compound Heterozygous Mutation: A Case Report.
CureusExome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
Genome medicinePneumatosis Cystoides Intestinalis in Muscular Dystrophy and Congenital Myopathies: A Report of Five Cases.
CureusA case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach.
Respiratory medicine case reportsMuscle cofilin alters neuromuscular junction postsynaptic development to strengthen functional neurotransmission.
Development (Cambridge, England)Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi004-A) from a patient with Congenital Nemaline Myopathy.
Stem cell researchNovel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay.
Prenatal diagnosisNemaline Myopathy in a Hypotonic Neonate: Diagnostic Approach for Early Detection and Management.
CureusFilamin C-Associated Nemaline Myopathy.
NeurologyCharacterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Acta neuropathologicaVariants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA.
HeliyonCase report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.
Frontiers in neurologyComprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.
Human molecular geneticsHIV-associated nemaline myopathy manifesting as bent spine syndrome.
BMJ case reportsSporadic Late-onset Nemaline Myopathy Associated with Sjögren's Syndrome.
Internal medicine (Tokyo, Japan)A Case of Nemaline Myopathy With Sleep-Related Hypoventilation Diagnosed Using Polysomnography During Daytime Napping.
CureusKLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.
GenesMetastasis-associated 1 localizes to the sarcomeric Z-disc and is implicated in skeletal muscle pathology.
Cytoskeleton (Hoboken, N.J.)Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Scientific reportsTirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy.
The Journal of general physiologyA rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del).
Genes & genomicsA Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia.
CureusTherapeutic Play Gym: Feasibility of a Caregiver-Mediated Exercise System for NICU Graduates with Neuromuscular Weakness-A Case Series.
Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy AssociationSynaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns.
CellsPeripheral thickening of the sarcomeres and pointed end elongation of the thin filaments are both promoted by SALS and its formin interaction partners.
PLoS geneticsCharacterization of NEB mutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
bioRxiv : the preprint server for biologyA recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Neuromuscular disorders : NMDAssessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA).
Journal of clinical medicineActin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies.
Antioxidants (Basel, Switzerland)A Rare Case Report of Dental and Craniofacial Manifestations of Nemaline Myopathy.
CureusFailure of Mandibular Distraction Osteogenesis in Klippel- Feil Syndrome- 4: A Case Report of a Rare Syndromic Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationClinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy.
European journal of obstetrics, gynecology, and reproductive biologyLate-onset sporadic nemaline myopathy presenting as hypercapnic respiratory failure.
NeurologiaSelf-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study.
Orphanet journal of rare diseasesA Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
International journal of molecular sciencesAnesthetic management for surgery in a nemaline myopathy patient with difficult airway: A CARE-compliant case report.
MedicineA brief history of the congenital myopathies - the myopathological perspective.
Neuromuscular disorders : NMDA nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin.
Proceedings of the National Academy of Sciences of the United States of AmericaPharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force.
International journal of molecular sciencesCerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy.
Journal of clinical medicineMorphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy.
Human molecular geneticsSporadic Late-Onset Nemaline Myopathy: Current Landscape.
Current neurology and neuroscience reportsMarked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMolecular mechanisms of inorganic-phosphate release from the core and barbed end of actin filaments.
Nature structural & molecular biologyCase report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis.
Frontiers in geneticsCongenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review.
CureusClinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center.
Acta neurologica BelgicaAutophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A.
European journal of translational myologyTreatment-responsive glycogen storage myopathy in a patient with POEMS syndrome: A new monoclonal gammopathy-associated myopathy.
European journal of neurologyArrhythmias in patients with X-linked myotubular myopathy.
Revista de neurologiaNemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.
European journal of human genetics : EJHGInspiratory Muscle Training in Nemaline Myopathy.
Journal of neuromuscular diseasesDynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.
eLifeAberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.
The American journal of pathologyDifferent Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.
The American journal of pathologyNovel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.
Journal of neuromuscular diseasesSporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment.
BMC neurologyDropped Head Syndrome As a Presenting Sign of Different Diseases: Report of Three Cases.
Noro psikiyatri arsiviMuscle magnetic resonance imaging involvement patterns in nemaline myopathies.
Annals of clinical and translational neurologyHTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report.
BMC musculoskeletal disordersDetecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation.
Neuromuscular disorders : NMDCase report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy.
Frontiers in geneticsPediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
Journal of child neurologyA new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Neuromuscular disorders : NMDACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy.
Experimental cell researchClinical Manifestation of Nebulin-Associated Nemaline Myopathy.
Neurology. GeneticsMolecular signatures of inherited and acquired sporadic late onset nemaline myopathies.
Acta neuropathologica communicationsNRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy.
Human molecular geneticsStructural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function.
Biophysical reviewsObservations of nemaline bodies in muscle biopsies of critically ill patients infected with SARS-CoV-2.
Microscopy (Oxford, England)NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Acta neuropathologica communicationsEarly clinical and pre-clinical therapy development in Nemaline myopathy.
Expert opinion on therapeutic targetsTherapeutic approaches in different congenital myopathies.
Current opinion in pharmacologyExon skipping caused by splicing mutation in TNNT1 nemaline myopathy.
Journal of human geneticsDisruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy.
Frontiers in cardiovascular medicineKBTBD13 is a novel cardiomyopathy gene.
Human mutationA KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Human molecular geneticsCombining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.
GenesNemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
International journal of molecular sciencesClinical Course of Dysphagia in Patients with Nemaline Myopathy.
Children (Basel, Switzerland)Nemaline myopathy in a six-month-old Pomeranian dog.
Journal of the South African Veterinary AssociationCase Report: Prenatal Diagnosis of Nemaline Myopathy.
Frontiers in pediatricsCase Report: Monoclonal Gammopathies of Clinical Significance-Associated Myopathy: A Case-Based Review.
Frontiers in oncologyRemoval of MuRF1 Increases Muscle Mass in Nemaline Myopathy Models, but Does Not Provide Functional Benefits.
International journal of molecular sciencesAdult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
Muscle & nerveSevere ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Acta neuropathologica communicationsRespiratory muscle function in patients with nemaline myopathy.
Neuromuscular disorders : NMDA case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.
Molecular genetics & genomic medicineGeneration of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene.
Stem cell researchGeneration of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene.
Stem cell researchNovel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern.
Neuromuscular disorders : NMDA review of major causative genes in congenital myopathies.
Journal of human geneticsThe Mechanisms of Thin Filament Assembly and Length Regulation in Muscles.
International journal of molecular sciencesClinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining.
Neurology(R) neuroimmunology & neuroinflammationA pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.
JCI insightA custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.
PloS oneCongenital myopathies: The current status.
Indian journal of pathology & microbiologyCoexisting sporadic late onset nemaline myopathy and AL amyloid myopathy - incidental or related?
Neuromuscular disorders : NMDAutosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).
Human mutationClinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
Orphanet journal of rare diseases68-year old man with progressive weakness and ventilator dependent respiratory failure: a case report of sporadic late onset nemaline myopathy.
BMC pulmonary medicineInvolvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
European journal of translational myologyNemaline myopathy in newly diagnosed systemic lupus erythematosus and Sjögren's overlap syndrome complicated by macrophage activation syndrome.
BMC rheumatologyTroponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings.
Neuromuscular disorders : NMDCorrigendum: A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy.
Frontiers in neurology[Autologous hematopoietic stem cell transplantation for the treatment of M protein-associated nemaline myopathy: a case report].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiRituximab as a treatment for human immunodeficiency virus-associated nemaline myopathy: What does the literature have to tell us?
World journal of clinical casesProteomic profiling of sporadic late-onset nemaline myopathy.
Annals of clinical and translational neurologyTNNT1 myopathy with novel compound heterozygous mutations.
Neuromuscular disorders : NMDCongenital Nemaline Myopathy with Dense Protein Masses.
Journal of neuropathology and experimental neurologyDaratumumab for treatment-refractory antibody-mediated diseases in neurology.
European journal of neurologyClinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
BMC pediatricsFormation of Cytoplasmic Actin-Cofilin Rods is Triggered by Metabolic Stress and Changes in Cellular pH.
Frontiers in cell and developmental biologyA homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.
American journal of medical genetics. Part AWhat Is in the Myopathy Literature?
Journal of clinical neuromuscular diseaseA Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy.
Frontiers in neurologyNemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure.
Internal medicine (Tokyo, Japan)A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
Neuromuscular disorders : NMDNovel deletion in the ACTA1 gene associated with milder phenotype of nemaline myopathy in Chinese patient: a case report.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyRecent advances in nemaline myopathy.
Neuromuscular disorders : NMDA case of sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: long-term observation of neurological symptoms after autologous stem-cell transplantation.
Nagoya journal of medical scienceTroponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics.
International journal of molecular sciencesNemaline Myopathy: A Case Report.
Case reports in neurologyGeneration of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene.
Stem cell researchImpact of hematologic complete response in the treatment of sporadic late-onset nemaline myopathy associated with monoclonal gammopathy.
Clinical case reportsA Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.
Frontiers in neurologyCongenital Myopathies: A Clinicopathological Study of 10 Cases in a Tertiary Care Hospital of North India.
Journal of pediatric neurosciencesProfound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant.
AJP reportsHigh prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients.
Neuromuscular disorders : NMDGenerating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.
Stem cell researchInflammatory features in sporadic late-onset nemaline myopathy are independent from monoclonal gammopathy.
Brain pathology (Zurich, Switzerland)A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
Molecular genetics & genomic medicineBiallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.
Neurology. GeneticsFetal akinesia: The need for clinical vigilance in first trimester with decreased fetal movements.
Taiwanese journal of obstetrics & gynecologyAcute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.
Human molecular geneticsNemaline myopathy with dilated cardiomyopathy and severe heart failure: A case report.
World journal of clinical casesNovel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient.
Neuromuscular disorders : NMDα-tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy.
Clinical case reportsComments on: Chemotherapy-based approach is the preferred treatment for sporadic late-onset nemaline myopathy with a monoclonal protein.
International journal of cancerClinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.
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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.
- Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy.
- The Diagnosis of Acquired, Late-Onset Nemaline Myopathy Should Not Be Made Before Primary Nemaline Myopathy Has Been Excluded.
- Sporadic Late-Onset Nemaline Myopathy Presenting with Dropped Head Syndrome and Complicated with Sjögren's Syndrome: A Case Report.
- Monoclonal Gammopathy - the common denominator of sporadic late-onset nemaline myopathy and paraproteinemic neuropathy.
- Sporadic late-onset nemaline myopathy (SLONM): Data from a case series and literature review of 144 patients.
- Nemaline Myopathy Associated with a NEB Splice-Site Variant: A Rare Case.
- Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:607(Orphanet)
- MONDO:0018958(MONDO)
- GARD:12033(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1507379(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.
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