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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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Autors principals: Braathen, Geir J, Sand, Jette C, Russell, Michael B
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2010
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Accés en línia: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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