Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship

Rawiphan Witoonpanich, Teeratorn Pulkes, Charungthai Dejthevaporn, Praphan Yodnopklao, Pirada Witoonpanich, Suppachok Wetchaphanphesat, Joan M. Brengman, Andrew G. Engel

Research output: Contribution to journalArticle

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)214-218
Number of pages5
JournalNeuromuscular Disorders
Volume21
Issue number3
DOIs
StatePublished - Mar 2011

Keywords

  • Acetylcholine receptor
  • Alpha subunit
  • Phenotypic heterogeneity
  • Slow-channel congenital myasthenic syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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    Witoonpanich, R., Pulkes, T., Dejthevaporn, C., Yodnopklao, P., Witoonpanich, P., Wetchaphanphesat, S., Brengman, J. M., & Engel, A. G. (2011). Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. Neuromuscular Disorders, 21(3), 214-218. https://doi.org/10.1016/j.nmd.2010.12.006