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

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

Authors: Park M.-H.; Woo H.-M.; Hong Y.B.; Park J.H.; Yoon B.R.; Park J.-M.; Yoo J.H.; Koo H.; Chae J.-H.; Chung K.W.; Choi B.-O.; Koo S.K.

Ewha Authors: 구혜수; 유정현

SCOPUS Author ID: 구혜수 ; 유정현

Issue Date: 2014

Journal Title: Neurogenetics

ISSN: 1364-6753

Citation: Neurogenetics vol. 15, no. 3, pp. 171 - 182

Publisher: Springer Verlag

Indexed: SCIE; SCOPUS

Document Type: Article

Abstract: C10orf2; Infantile-onset spinocerebellar ataxia (IOSCA); Mitochondria; Myopathy; Neuropathy; Whole exome sequencing (WES)

DOI: 10.1007/s10048-014-0405-1

Appears in Collections:: 의과대학 > 의학과 > Journal papers

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