Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital myasthenic syndrome

S Shin Kikuchi N Nobuhiro Wada T Tasuku Mariya A Aki Ishikawa M Minako Kihara S Sawako Furukawa H Hidekazu Kato Y Yosuke Nishio T Tomoo Ogi Y Yuki Ohsaki (Department of Anatomy (I), Sapporo Medical University, S1W17 Chuo-ku, Sapporo, Hokkaido 060-8556, Japan) N Nobutada Tachi