Publication: Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship
Issued Date
2011-03-01
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ISSN
09608966
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2-s2.0-79951942777
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Mahidol University
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SCOPUS
Bibliographic Citation
Neuromuscular Disorders. Vol.21, No.3 (2011), 214-218
Suggested Citation
Rawiphan Witoonpanich, Teeratorn Pulkes, Charungthai Dejthevaporn, Praphan Yodnopklao, Pirada Witoonpanich, Suppachok Wetchaphanphesat, Joan M. Brengman, Andrew G. Engel Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. Neuromuscular Disorders. Vol.21, No.3 (2011), 214-218. doi:10.1016/j.nmd.2010.12.006 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/12621
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Title
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship
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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. © 2010 Elsevier B.V.