Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis

BACKGROUND: Mutations of myelin protein zero (MPZ) may cause inherited neuropathy with variable expression. OBJECTIVE: To report phenotypic variability in a large American kindred with MPZ mutation His39Pro. PATIENTS: Genetic testing was performed on 77 family members and 200 controls. Clinical and...

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Detalhes bibliográficos
Main Authors: Kilfoyle, D H, Dyck, P J, Wu, Y, Litchy, W J, Klein, D M, Dyck, P J B, Kumar, N, Cunningham, J M, Klein, C J
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2077629/
https://ncbi.nlm.nih.gov/pubmed/16844954
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2006.090076
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