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

Neurogenetics - 1 Aug 2014

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

Abstract excerpt

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 recessive mutations in a Korean family with two individuals affected by IOSCA. Causative mutations were investigated...

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Identifiers

PMID: 24816431
DOI: 10.1007/s10048-014-0405-1
PMCID: PMC4102772

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