Journal
NEUROMUSCULAR DISORDERS
Volume 21, Issue 3, Pages 214-218Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2010.12.006
Keywords
Slow-channel congenital myasthenic syndrome; Alpha subunit; Acetylcholine receptor; Phenotypic heterogeneity
Categories
Funding
- NIH [NS6277]
- Muscular Dystrophy Association
Ask authors/readers for more resources
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. (C) 2010 Elsevier B.V. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available