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Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern ScandinaviaDOI 10.1038/ejhg.2009.217
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.Semantic proximity
Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenitaSemantic proximity
Gene symbol: CLCN1. Disease: Myotonia congenita.Semantic proximity
Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.Semantic proximity
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.Semantic proximity
Targeted Next Generation Sequencing in patients with Myotonia Congenita.Semantic proximity
Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family.Semantic proximity
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.Semantic proximity
Clinical and genetic characteristics of myotonia congenita in Chinese population.Semantic proximity
Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.Semantic proximity
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.Semantic proximity
[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita].Semantic proximity
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