TPMT*26 (208F→L), a novel mutation detected in a Chinese
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چکیده
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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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To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on the propositus from a five-generation ADNSHL family through polymerase chain reaction amplification and Sanger sequencing. The candidate variation and the co-segregation...
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ژورنال
عنوان ژورنال: British Journal of Clinical Pharmacology
سال: 2009
ISSN: 0306-5251,1365-2125
DOI: 10.1111/j.1365-2125.2009.03405.x