PDF(Pubmed)
Abstract：
Myotonia congenita is a rare neuromuscular disorder caused by CLCN1 mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac manifestations have been described. We report a family with autosomal dominant myotonia congenita and Brugada syndrome. Bearing in mind the previously reported cases of cardiac arrhythmias in myotonia congenita patients, we discuss the possible involvement of the CLCN1-gene mutations in primary cardiac arrhythmia.
摘要：
先天性肌强直是由CLCN1突变引起的一种罕见的神经肌肉疾病，导致肌肉松弛延迟。肌外表现不被认为存在于氯化物骨骼通道病，尽管最近已经描述了一些心脏表现。我们报告了一个常染色体显性遗传性先天性肌强直症和Brugada综合征的家庭。考虑到先前报道的先天性肌强直患者的心律失常病例，我们讨论了CLCN1基因突变可能与原发性心律失常有关.
