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A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401+1G > A) in CLCN1 gene of a Chinese Han patient 期刊论文

编号：

97c8d101-f017-4fdf-b25f-73b27c4300b2
作者：

Miao, Jing(苗晶)#Wei, Xiaojing;Liu, Xuemei;Kang, Zhixia;Gao, Yanlu;Yu, Xuefan(于雪凡)*^[1]
语种：

英文
期刊：

BMC NEUROLOGY ISSN：1471-2377 2018 年 18 卷 ; SEP 22
收录：
关键词：

Myotonia congenita Autosomal recessive Case report CLCN1 gene
摘要：

Background: Autosomal recessive Myotonia congenita (Becker's disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to improve with repeated contractions.
Case presentation: A 21-year-old man presented with transient muscle stiffness since the last 10 years. He had difficulty in initiating movement and experienced muscle weakness after rest, which typically improved after repeated contraction (warm-up phenomenon). There was no significant family history. Medical examination showed generalized muscle hypertrophy. Serum creatine kinase level was 2-fold higher than the normal value. Electromyogram showed myotonic discharges. DNA sequence analysis identified a novel splice mutation (c.1401 + 1G > A) and a known mutation (c.1657A > T,p.lle553Phe). He rapidly responded to treatment with mexiletine 100 mg three times a day for 6 months.
Conclusions: This case report of autosomal recessive Myotonia congenita caused by a novel compound heterozygous mutation expands the genotypic spectrum of CLCN1 gene.
推荐引用方式
GB/T 7714：

Miao Jing,Wei Xiao-jing,Liu Xue-mei, et al. A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401+1G > A) in CLCN1 gene of a Chinese Han patient [J].BMC NEUROLOGY,2018,18.
APA：

Miao Jing,Wei Xiao-jing,Liu Xue-mei,Kang Zhi-xia,&Yu Xue-fan.(2018).A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401+1G > A) in CLCN1 gene of a Chinese Han patient .BMC NEUROLOGY,18.
MLA：

Miao Jing, et al. "A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401+1G > A) in CLCN1 gene of a Chinese Han patient" .BMC NEUROLOGY 18(2018).
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