Identification of a novel non-sense mutation in TBX5 gene in pediatric patients with congenital heart defects
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A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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ژورنال
عنوان ژورنال: Journal of Cardiovascular and Thoracic Research
سال: 2018
ISSN: 2008-5117,2008-6830
DOI: 10.15171/jcvtr.2018.07