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

作者：Witoonpanich Rawiphan^*; Pulkes Teeratorn; Dejtheva**** Charungthai; Yodnopklao Praphan; Witoonpanich Pirada; Wetchaphanphesat Suppachok; Brengman Joan M; Engel Andrew G

来源：Neuromuscular Disorders, 2011, 21(3): 214-218.

DOI：10.1016/j.nmd.2010.12.006

• Slow-channel congenital myasthenic syndrome
• Alpha subunit
• Acetylcholine receptor
• Phenotypic heterogeneity

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 alpha 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.

• 出版日期2011-3