Referenced in: none

Automatically associated channels: Slo1

Title: Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship.

Authors: Rawiphan Witoonpanich, Teeratorn Pulkes, Charungthai Dejthevaporn, Praphan Yodnopklao, Pirada Witoonpanich, Suppachok Wetchaphanphesat, Joan M Brengman, Andrew G Engel

Journal, date & volume: Neuromuscul. Disord., 2011 Mar , 21, 214-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21316238

Abstract
The slow-channel congenital myasthenic syndrome (SCCMS) is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor (AChR). We here report our clinical findings in three generations of a large Thai kinship suffering from SCCMS and trace the disease to the p.Gly153Ser mutation in the AChR α subunit. The same mutation had previously been reported only in Caucasian but not in Asian patients. The clinical features include ptosis, ophthalmoparesis, and weakness of the cervical and finger extensor muscles as well as marked phenotypic heterogeneity.