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Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome

BACKGROUND: The Charcot-Marie-Tooth (CMT) phenotype caused by mutation in the myelin protein zero (MPZ) gene varies considerably, from early onset and severe forms to late onset and milder forms. The mechanism is not well understood. The myelin protein zero (P(0)) mediates adhesion in the spiral wra...

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Detalhes bibliográficos
Main Authors: Braathen, Geir J, Sand, Jette C, Russell, Michael B
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2861067/
https://ncbi.nlm.nih.gov/pubmed/20385006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-3-99
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