Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and nerve biopsy defined the neuropathy as axonal type. Genetic analysis of my...

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Autores principales: Chapon, F, Latour, P, Diraison, P, Schaeffer, S, Vandenberghe, A
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 1999
Materias:
Short Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736388/
https://ncbi.nlm.nih.gov/pubmed/10329755
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