Novel CLCN1 mutations with unique clinical and electrophysiological consequences
نویسندگان
چکیده
منابع مشابه
Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
Myotonia is a condition characterized by impaired relaxation of muscle following sudden forceful contraction. We systematically screened all 23 exons of the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients. Six novel mutations were discovered: five were missense (S132C, L283F, T310M, F428S and T550M) found in heterozygous patients, and one was a nonsense...
متن کاملNovel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations. Detailed clinical analysis was performed in these patients to identify thei...
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متن کاملA Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita
Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1). CLCN1 encodes for the m...
متن کاملNovel Mutations in the CLCN1 Gene of Myotonia Congenita: 2 Case Reports
INTRODUCTION Myotonia Congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident as clinical and electrical myotonia. METHODS We report the clinical presentations of two individuals with Myotonia Congenita (MC). RESULTS Patient ...
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ژورنال
عنوان ژورنال: Brain
سال: 2002
ISSN: 1460-2156
DOI: 10.1093/brain/awf246