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

作     者：Jia-Ze Tan Yuan Man Fei Xiao 

作者机构：Department of Neurology The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Neurology Chongqing 400016 China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2016年第129卷第21期

页      面：2596-2602页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

基　　金：supported by the National key Clinical Specialist Construction Programmes of China 

主　　题：Acetylcholine Receptor Epsilon-subunit Gene Repetitive-compound Muscle Action Potential Repetitive NerveStimulation Slow-channel Congenital Myasthenie Syndrome 

摘      要：Background：Congenital myasthenic syndromes are a group orrare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular ***,we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome （SCCMS）.Methods：Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined,and next-generation sequencing followed by direct sequencing was carried ***：The patients revealed variability in clinical and electrophysiological ***,weakness,scoliosis,and repetitive-compound muscle action potential were found in all affected members in the family.A heterozygous C〉T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit （CHRNE） gene that causes a leucine-to-phenylalanine substitution at position 289 （L289F） was ***：We reported a SCCMS family of Chinese *** the family,classical clinical phenotype with phenotypic variability among different members was *** testing could help diagnose this rare disease.