Article
Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.
Neuromuscular disorders : NMD - 1 Jan 2015
Azuma Yoshiteru, Nakata Tomohiko, Tanaka Motoki, Shen Xin-Ming, Ito Mikako, Iwata Satoshi, Okuno Tatsuya, Nomura Yoshiko, Ando Naoki, Ishigaki Keiko, Ohkawara Bisei, Masuda Akio, Natsume Jun, Kojima Seiji, Sokabe Masahiro, Ohno Kinji
Abstract excerpt
Congenital myasthenic syndromes (CMS) are caused by mutations in genes expressed at the neuromuscular junction. Most CMS patients have been reported in Western and Middle Eastern countries, and only four patients with COLQ mutations have been reported in Japan. We here report six mutations in acetylcholine receptor (AChR) subunit genes in five Japanese patients. Five mutations are novel, and one mutation is...
Topics
- Adolescent
- Adult
- Child
- Female
- HEK293 Cells
- Humans
- Japan
- Male
- Muscle, Skeletal
- Mutation
- Myasthenic Syndromes, Congenital