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

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

Background: Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presented with phenotypes of classic slow-channel...

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Bibliographic Details
Main Authors: Jia-Ze Tan, Yuan Man, Fei Xiao
Format: Article
Language:English
Published: Wolters Kluwer 2016-01-01
Series:Chinese Medical Journal
Subjects:
Acetylcholine Receptor Epsilon-subunit Gene; Repetitive-compound Muscle Action Potential; Repetitive Nerve Stimulation; Slow-channel Congenital Myasthenic Syndrome
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=21;spage=2596;epage=2602;aulast=Tan

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http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=21;spage=2596;epage=2602;aulast=Tan

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