A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene

Charcot-Marie-Tooth type 2A disease (CMT2A) caused by mutations in the Mitofusin 2 gene (Mfn2) has been shown to be an early-onset axonal neuropathy with severe clinical course in the majority of the patients. In this study we present a unique phenotype of CMT2A disease characterized by late-onset p...

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Detalles Bibliográficos
Autores principales: KOTRUCHOW, KATARZYNA, KABZIŃSKA, DAGMARA, HAUSMANOWA-PETRUSEWICZ, IRENA, KOCHAŃSKI, ANDRZEJ
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006276/
https://www.ncbi.nlm.nih.gov/pubmed/24803844

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