Publications by authors named "Praphan Yodnopklao"
Neuromuscul Disord
March 2011
Article Synopsis
- The slow-channel congenital myasthenic syndrome (SCCMS) is a genetic neuromuscular disorder linked to mutations in the acetylcholine receptor (AChR), inherited in an autosomal dominant manner.
- A study identified the p.Gly153Ser mutation in a large Thai family affected by SCCMS, marking its first report in Asian patients after being previously documented only in Caucasians.
- The clinical symptoms observed in affected individuals included drooping eyelids (ptosis), eye movement difficulties (ophthalmoparesis), and weakness in neck and finger muscles, showing considerable variation among patients.
