Subtipo da doença de Charcot-Marie-Tooth com defeitos genéticos no cromossomo X.
Introdução
O que você precisa saber de cara
Subtipo da doença de Charcot-Marie-Tooth com defeitos genéticos no cromossomo X.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 42 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 97 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
4 genes identificados com associação a esta condição. Padrão de herança: X-linked dominant, X-linked recessive.
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis
Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen sp
Mitochondrion matrix
Charcot-Marie-Tooth disease, X-linked dominant, 6
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.
Functions both as NADH oxidoreductase and as regulator of apoptosis (PubMed:17094969, PubMed:20362274, PubMed:23217327, PubMed:33168626). In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway (PubMed:20362274). Release into the cytoplasm is mediated upon binding to poly-ADP-ribose chains (By similarity). The soluble form (AIFsol) found in the nuc
Mitochondrion intermembrane spaceMitochondrion inner membraneCytoplasmNucleusCytoplasm, perinuclear regionMitochondrionCytoplasm, cytosol
Combined oxidative phosphorylation deficiency 6
A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy.
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell
Cell membraneCell junction, gap junction
Charcot-Marie-Tooth disease, X-linked dominant, 1
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur.
Variantes genéticas (ClinVar)
719 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 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 — Charcot-Marie-Tooth ligada ao X
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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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Publicações mais relevantes
Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease.
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a rare inherited neuropathy caused by mutations in the GJB1 gene, leading to progressive distal muscle weakness and atrophy. In this case study, a 37-year-old man presented with recurrent episodes of numbness involving the lips, right hand, and foot, followed by right-sided limb weakness and dysarthria four times over the past 20 years. Notably, the last three episodes were consistently triggered within 3 days after descent to sea level following exposure to high-altitude environments (8,500-10,000 feet, with transit above 13,000 feet). Based on the neurologic examination, brain magnetic resonance imaging (MRI), and genetic testing, the patient was diagnosed with X-linked Charcot-Marie-Tooth disease. This case underscores the importance of considering high-altitude exposure as a potential trigger and highlights the value of GJB1 testing in young patients presenting with acute stroke-like episodes and signs of peripheral neuropathy.
Patient-derived neural organoids reveal developmental impairments associated with a novel GJB1 mutation in X-linked Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease (CMT) is one of the most prevalent inherited peripheral neuropathies. CMT type X1 (CMTX1), caused by mutations in the GJB1 gene, represents the most common X-linked subtype with central nervous system (CNS) involvement. Here, we report the identification and functional characterization of a novel GJB1 variant (c.554C > T, p.Thr185Ile) in a CMTX1-affected family and its pathogenic impact using patient-derived induced pluripotent stem cells (iPSCs) and three-dimensional (3D) neural organoid models. The GJB1 gene encodes connexin 32 (Cx32), a gap junction protein. Immunofluorescent analysis revealed aberrant intracellular reduction and aggregation of the mutant Cx32 protein, suggesting impaired gap junction function. iPSC-derived neural organoids carrying the GJB1 mutation exhibited significant delay in neural differentiation and disrupted neural rosette organization. These findings underscore the critical role of Cx32 in neural development and provide a physiologically relevant platform for underlying CMTX1 pathological mechanisms on central nervous system. The established GJB1-variant organoid model holds promise for investigating genotype-phenotype correlations and facilitating the development of targeted therapeutic strategies for CMTX1.
Facing the challenge of effective dosing, safety, and timing of intrathecal gene therapy for neurological disorders.
[A case of X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy].
The patient is a 17-year-old male. He had a history of hospitalization for influenza at the age of 11, and Brain MRI at that time showed reversible brain lesions in the splenium of the corpus callosum and cerebral white matter. Fifteen months ago, he visited the pediatrics department due to dysphagia, dysarthria, facial paralysis, and muscle weakness. Brain MRI revealed lesions similar to those observed here, and nerve conduction study revealed demyelinating neuropathy. He was treated with intravenous immunoglobulin (IVIg) and intravenous methylprednisolone, and his symptoms disappeared within a few days and Brain MRI 5 weeks after treatment revealed that the lesions had disappeared. Three months ago, while walking, the patient developed a knee strain, which was thought to be a recurrence of the immune-mediated neuropathy. His subjective symptom disappeared after administration of IVIg. The patient was diagnosed with X-linked Charcot-Marie-Tooth disease (CMTX1) based on genetic testing, which revealed a pathological variant of GJB1, c.124A>T (p.Ser42Cys). Peripheral neuropathy in CMTX1 may present with fluctuating symptoms and can be responsive to IVIg treatment. Recurrent brain lesions should also be considered in the diagnosis of CMTX1.
Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis.
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a hereditary neuropathy caused by mutations in the GJB1 gene encoding Connexin 32 (Cx32). Despite its X-linked dominant inheritance, it has been suggested that the variable phenotypic expression of the disease in females may be due to skewed X chromosome inactivation (XCI) in Schwann cells. This pilot study aimed to examine the XCI patterns in archived sural nerve biopsies of female patients diagnosed with CMTX1 for the first time in the literature. Two unrelated female CMTX1 patients, initially misdiagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP), with motor conduction blocks were included. GJB1 mutations were identified using whole-exome sequencing (WES). XCI patterns were analyzed using the human androgen receptor (HUMARA) assay on archived fresh-frozen sural nerve biopsy samples performed prior the genetic diagnosis and compared with age-matched vasculitic neuropathy controls. The GJB1 c.379 A > C mutation was identified in both CMTX1 patients. XCI analysis revealed a random XCI pattern in affected nerve tissues, with no significant differences between patients and controls. Contrary to previous hypotheses, our findings suggest that XCI does not contribute to phenotypic variability in female CMTX1 patients. These results highlight the complexity of CMTX1 pathophysiology and highlight the need for further studies on alternative mechanisms regulating disease severity in females.
Publicações recentes
Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease.
Patient-derived neural organoids reveal developmental impairments associated with a novel GJB1 mutation in X-linked Charcot-Marie-Tooth disease.
[A case of X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy].
A Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature.
Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis.
📚 EuropePMC136 artigos no totalmostrando 80
Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease.
Frontiers in geneticsPatient-derived neural organoids reveal developmental impairments associated with a novel GJB1 mutation in X-linked Charcot-Marie-Tooth disease.
Neurobiology of diseaseFacing the challenge of effective dosing, safety, and timing of intrathecal gene therapy for neurological disorders.
EBioMedicine[A case of X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy].
Rinsho shinkeigaku = Clinical neurologyA Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature.
Journal of clinical neuromuscular diseaseRandom X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis.
BMC neurologyA dose escalation and safety study of AAVrh10-mediated Schwann cell-targeted gene therapy for CMT1X.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics[Analysis of clinical and novel gene mutations with X-linked Charcot-marie-tooth disease type 1].
Zhonghua yi xue za zhiPhenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.
European journal of neurologyNovel Missense Mutation in GJB1 Gene Leading to X-linked Charcot-Marie-Tooth Disease in Young Male: A Case Report.
Neurology IndiaHereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant.
BMC neurologyX-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.
Frontiers in cellular neuroscienceEpisodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.
Journal of clinical neurology (Seoul, Korea)Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.
Journal of the peripheral nervous system : JPNSCorrigendum: Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.
Frontiers in neuroscienceStructures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
Science advancesGene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy.
Molecular therapy. Methods & clinical developmentPregnancy as trigger of central nervous system dysfunction in type 1 X-linked Charcot-Marie-Tooth disease.
Muscle & nerveSpatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation.
Internal medicine (Tokyo, Japan)Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
European journal of neurologyMechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.
Neural regeneration researchCharcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects.
Internal medicine (Tokyo, Japan)X-linked Charcot-Marie-Tooth disease after SARS-CoV-2 vaccination mimicked stroke-like episodes: A case report.
World journal of clinical casesA novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.
Molecular genetics & genomic medicineNovel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.
Frontiers in neuroscienceConnexin Mutations and Hereditary Diseases.
International journal of molecular sciencesA Novel PRPS1 Mutation in a Japanese Patient with CMTX5.
Internal medicine (Tokyo, Japan)Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.
NeuroradiologyGJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease.
Case reports in neurologyAAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.
Gene therapyEffects of early crush on aging wild type and Connexin 32 knockout mice: Evidence for a neuroprotective state in CMT1X mouse nerve.
Journal of the peripheral nervous system : JPNSTransient, Recurrent Central Nervous System Clinical Manifestations of X-Linked Charcot-Marie-Tooth Disease Presenting with Very Long Latency Periods between Episodes: Is Prolonged Sun Exposure a Provoking Factor?
Case reports in neurological medicineGJB1 Mutation-A Disease Spectrum: Report of Case Series.
Frontiers in neurologyExpansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaEvidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.
Journal of the International Neuropsychological Society : JINSA novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.
Molecular genetics & genomic medicineAtypical Pediatric Demyelinating Diseases of the Central Nervous System.
Current neurology and neuroscience reportsA novel mutation in PRPS1 causes X-linked Charcot-Marie-Tooth disease-5.
Neuropathology : official journal of the Japanese Society of NeuropathologyGene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.
Human molecular geneticsThree novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.
Clinical neurology and neurosurgeryX-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms.
NeuropediatricsNew novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease.
Journal of the peripheral nervous system : JPNSA Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms.
Frontiers in neurologyCNS phenotype in X linked Charcot- Marie-Tooth disease.
Journal of neurology, neurosurgery, and psychiatryAcetylation of C-terminal lysines modulates protein turnover and stability of Connexin-32.
BMC cell biologyX linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association.
Journal of neurology, neurosurgery, and psychiatryX-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
Brain & developmentA novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4.
Neuromuscular disorders : NMDThe Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.
Frontiers in neurologyGenetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.
European journal of neurologyAnaesthesia and orphan diseases: anaesthetic management of a patient with X-linked Charcot-Marie-Tooth disease type 1.
European journal of anaesthesiology[Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient].
Rinsho shinkeigaku = Clinical neurologyReversible lesions of the corpus callosum with initially restricted diffusion in a series of Caucasian children.
Pediatric radiologyCoexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China.
Journal of clinical neurology (Seoul, Korea)Intrathecal gene therapy in mouse models expressing CMT1X mutations.
Human molecular geneticsX-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.
MedicineAn 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.
Muscle & nerveSubstitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.
Journal of theoretical biologyCharcot-Marie-Tooth Disease 1X Simulating Paraparetic Guillain-Barre Syndrome.
The neurologistA novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.
European journal of neurologyPreimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis.
Medicina clinicaCross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
NeurologyDeletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.
Neuromuscular disorders : NMDClinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.
Journal of the peripheral nervous system : JPNSMutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
NeurologyCentrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.
Neurology. GeneticsSystemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.
Acta neuropathologica communicationsMutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.
Chinese medical journalCNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyIntrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.
Proceedings of the National Academy of Sciences of the United States of AmericaX-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.
Journal of the peripheral nervous system : JPNSSecondary structural analysis of the carboxyl-terminal domain from different connexin isoforms.
BiopolymersA Review of X-linked Charcot-Marie-Tooth Disease.
Journal of child neurologyA novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.
European journal of human genetics : EJHGConnexin: a potential novel target for protecting the central nervous system?
Neural regeneration researchIntraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.
Annals of neurologyRelapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement.
Case reports in neurological medicineA start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.
NeurogeneticsEpisodic neurological dysfunction in hereditary peripheral neuropathy.
Annals of Indian Academy of NeurologyA novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaAssociações
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Comunidades
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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.
- Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease.
- Patient-derived neural organoids reveal developmental impairments associated with a novel GJB1 mutation in X-linked Charcot-Marie-Tooth disease.
- Facing the challenge of effective dosing, safety, and timing of intrathecal gene therapy for neurological disorders.
- [A case of X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy].
- Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis.
- A Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:64747(Orphanet)
- MONDO:0018994(MONDO)
- GARD:12444(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3281260(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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