TY - JOUR
T1 - Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship
AU - Witoonpanich, Rawiphan
AU - Pulkes, Teeratorn
AU - Dejthevaporn, Charungthai
AU - Yodnopklao, Praphan
AU - Witoonpanich, Pirada
AU - Wetchaphanphesat, Suppachok
AU - Brengman, Joan M.
AU - Engel, Andrew G.
N1 - Funding Information:
This work was supported in part by Clinical Neurophysiology Fund , Ramathibodi Foundation, Research Grant NS6277 from NIH (to AGE) and Research Grant from the Muscular Dystrophy Association (to AGE).
PY - 2011/3
Y1 - 2011/3
N2 - 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.
AB - 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.
KW - Acetylcholine receptor
KW - Alpha subunit
KW - Phenotypic heterogeneity
KW - Slow-channel congenital myasthenic syndrome
UR - http://www.scopus.com/inward/record.url?scp=79951942777&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79951942777&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2010.12.006
DO - 10.1016/j.nmd.2010.12.006
M3 - Article
C2 - 21316238
AN - SCOPUS:79951942777
SN - 0960-8966
VL - 21
SP - 214
EP - 218
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 3
ER -