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X-linked Charcot–Marie–Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report
RATIONALE: Charcot–Marie–Tooth disease (CMT) is typically an autosomal dominant, inherited neuropathy, although there is a rare male X-linked CMT. Such patients show central nervous system (CNS) involvement in addition to peripheral neuropathy. Recently, we encountered a patient who presented with a...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Wolters Kluwer Health
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728979/ https://www.ncbi.nlm.nih.gov/pubmed/29245364 http://dx.doi.org/10.1097/MD.0000000000009176 |