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Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation

OBJECTIVE—To report a novel hereditary motor and sensory neuropathy (HMSN) phenotype, with partial steroid responsiveness, caused by a novel dominant mutation in the myelin protein zero (MPZ) gene. Most MPZ mutations lead to the HMSN type I phenotype, with recent reports of Déjérine-Sottas, congenit...

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Detalhes bibliográficos
Main Authors: Donaghy, M, Sisodiya, S, Kennett, R, McDonald, B, Haites, N, Bell, C
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1737181/
https://ncbi.nlm.nih.gov/pubmed/11080236
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.69.6.799
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