Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Hereditary motor and sensory neuropathy type I (HMSN I), also designated Charcot-Marie-Tooth disease type 1 (CMT1), is a peripheral neuropathy frequently inherited as an autosomal dominant trait, characterised by progressive distal muscular atrophy and sensory loss with markedly decreased nerve cond...

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Autores principales: Brice, A, Ravisé, N, Stevanin, G, Gugenheim, M, Bouche, P, Penet, C, Agid, Y
Formato: Artigo
Lenguaje:Inglês
Publicado: 1992
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016177/
https://ncbi.nlm.nih.gov/pubmed/1453432
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