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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Detalles Bibliográficos
Autores principales: Morino, Hiroyuki, Matsuda, Yukiko, Muguruma, Keiko, Miyamoto, Ryosuke, Ohsawa, Ryosuke, Ohtake, Toshiyuki, Otobe, Reiko, Watanabe, Masahiko, Maruyama, Hirofumi, Hashimoto, Kouichi, Kawakami, Hideshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693440/
https://www.ncbi.nlm.nih.gov/pubmed/26715324
http://dx.doi.org/10.1186/s13041-015-0180-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693440/
https://www.ncbi.nlm.nih.gov/pubmed/26715324
http://dx.doi.org/10.1186/s13041-015-0180-4

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