Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

Recessive mutations in chromosome 10 open reading frame 2 (C10orf2) are relevant in infantile-onset spinocerebellar ataxia (IOSCA). In this study, we investigated the causative mutation in a Korean family with combined phenotypes of IOSCA, sensorimotor polyneuropathy, and myopathy. We investigated r...

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Detalles Bibliográficos
Autores principales: Park, Mi-Hyun, Woo, Hae-Mi, Hong, Young Bin, Park, Ji Hoon, Yoon, Bo Ram, Park, Jin-Mo, Yoo, Jeong Hyun, Koo, Heasoo, Chae, Jong-Hee, Chung, Ki Wha, Choi, Byung-Ok, Koo, Soo Kyung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102772/
https://www.ncbi.nlm.nih.gov/pubmed/24816431
http://dx.doi.org/10.1007/s10048-014-0405-1

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