title: Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship.
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.
authors.affiliation: Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. rarwt@mahidol.ac.th
authors.forename: Rawiphan
authors.initials: R
authors.lastname: Witoonpanich
authors.forename: Teeratorn
authors.initials: T
authors.lastname: Pulkes
authors.forename: Charungthai
authors.initials: C
authors.lastname: Dejthevaporn
authors.forename: Praphan
authors.initials: P
authors.lastname: Yodnopklao
authors.forename: Pirada
authors.initials: P
authors.lastname: Witoonpanich
authors.forename: Suppachok
authors.initials: S
authors.lastname: Wetchaphanphesat
authors.forename: Joan M
authors.initials: JM
authors.lastname: Brengman
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Engel
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D010641:Phenotype; D011978:Receptors, Nicotinic / Q000235:genetics*; D012694:Serine / Q000235:genetics; D035781:Siblings; D013785:Thailand; D055815:Young Adult
chemical_list: D011978:Receptors, Nicotinic; D012694:Serine; D005998:Glycine