Shprintzen–Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy
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چکیده
منابع مشابه
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 Genetic Medicine
سال: 2020
ISSN: 1226-1769,2383-8442
DOI: 10.5734/jgm.2020.17.1.43