A novel mutation of myelin protein zero associated with an axonal form of Charcot–Marie–Tooth disease

Objective: To report a new mutation in the MPZ gene which encodes myelin protein zero (P0), associated with an axonal form of Charcot–Marie–Tooth disease (CMT). Methods: Three patients from an Italian family with a mild, late onset axonal peripheral neuropathy are described clinically and electrophy...

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Main Authors: Santoro, L, Manganelli, F, Di, M, Bordo, D, Cassandrini, D, Ajmar, F, Mandich, P, Bellone, E
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 2004
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Paper
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1738925/
https://ncbi.nlm.nih.gov/pubmed/14742601
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