scholarly journals A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

2016 ◽  
Vol 129 (21) ◽  
pp. 2596-2602 ◽  
Author(s):  
Jia-Ze Tan ◽  
Yuan Man ◽  
Fei Xiao
Keyword(s):  
Missense Mutation ◽  
Acetylcholine Receptor ◽  
Autosomal Dominant ◽  
Congenital Myasthenic Syndrome ◽  
Chinese Family ◽  
Epsilon Subunit ◽  
Slow Channel ◽  
Myasthenic Syndrome

P2.39 Mutation of alpha subunit of acetylcholine receptor causing slow-channel congenital myasthenic syndrome in a Thai family

2010 ◽  
Vol 20 (9-10) ◽  
pp. 630
Author(s):  
R. Witoonpanich ◽  
T. Pulkes ◽  
C. Dejthevaporn ◽  
P. Yodnopklao ◽  
P. Witoonpanich ◽  
...  
Keyword(s):  
Acetylcholine Receptor ◽  
Alpha Subunit ◽  
Congenital Myasthenic Syndrome ◽  
Slow Channel ◽  
Myasthenic Syndrome

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

2021 ◽  
Vol 8 (1) ◽  
pp. 163-167
Author(s):  
Inuka Kishara Gooneratne ◽  
Shanika Nandasiri ◽  
Susan Maxwell ◽  
Richard Webster ◽  
Judith Cossins ◽  
...  
Keyword(s):  
Acetylcholine Receptor ◽  
Genetic Basis ◽  
Novel Mutation ◽  
Alpha Subunit ◽  
Congenital Myasthenic Syndrome ◽  
Heterozygous Mutation ◽  
Slow Channel ◽  
Genes Encoding ◽  
Functional Defect ◽  
Myasthenic Syndrome

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, delta, or epsilon subunits of the acetylcholine receptor resulting in a functional defect which is an increase of the opening time of the receptor. We report a case of SCCMS due to a heterozygous mutation in the M2 domain of the AChR alpha subunit - CHRNA1:ENST00000348749.6:exon7:c.806T>G:p.Val269Gly and corresponding kinetic defect. A substitution of valine with phenylalanine in the same position has been previously described. This is the first reported case of a new CHRNA1 variant in a patient with SCCMS from South Asia. We also highlight the phenotype that would favour a genetic basis over an autoimmune one, in an adult presenting with fatigable weakness.

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