A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome

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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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Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome

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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: Human Genome Variation

سال: 2016

ISSN: 2054-345X

DOI: 10.1038/hgv.2016.3