Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report

Congenital myasthenic syndromes (CMS) result from genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. The slow-channel CMS (SCCMS) is an autosomal dominant postsynaptic defect caused by mutations in genes encoding alpha, beta, del...

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Veröffentlicht in:	Journal of neuromuscular diseases 2021-01, Vol.8 (1), p.163-167
Hauptverfasser:	Gooneratne, Inuka Kishara, Nandasiri, Shanika, Maxwell, Susan, Webster, Richard, Cossins, Judith, Beeson, David, Gunaratne, Kamal, Herath, Lalinka, Senanayake, Sunethra, Chang, Thashi
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetylcholine receptors (muscarinic) Case reports Congenital defects Mutation Myasthenia Neuromuscular junctions Phenotypes Phenylalanine Structure-function relationships Valine
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