A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

BACKGROUND: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease. To date, 36 dominantly inherited loci have been reported, and 31 causative genes have been identified. RESULTS: In this study, we analyzed a Japanese family with autosomal dominant SCA using linkage analysis and exome s...

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Bibliografiske detaljer
Udgivet i:Mol Brain
Main Authors: Morino, Hiroyuki, Matsuda, Yukiko, Muguruma, Keiko, Miyamoto, Ryosuke, Ohsawa, Ryosuke, Ohtake, Toshiyuki, Otobe, Reiko, Watanabe, Masahiko, Maruyama, Hirofumi, Hashimoto, Kouichi, Kawakami, Hideshi
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4693440/
https://ncbi.nlm.nih.gov/pubmed/26715324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-015-0180-4
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