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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kim, Jin Kyu, Han, Seung-A, Kim, Sun Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
3500
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

Internet

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

Ejemplares similares