Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita
نویسندگان
چکیده
منابع مشابه
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
Autosomal dominant myotonia congenita and autosomal recessive generalized myotonia (GM) are genetic disorders characterized by the symptom of myotonia, which is based on an electrical instability of the muscle fiber membrane. Recently, these two phenotypes have been associated with mutations in the major muscle chloride channel gene CLCN1 on human chromosome 7q35. We have systematically screene...
متن کاملCLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel
Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1). Mutations of CLCN1 result in either autosomal dominant MC (Thomsen disease) or autosomal recessive MC (Becker disease). The ClC-1 protein is a homodimer with a separate ion pore within each monomer. Mutations causing recessi...
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 ...
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 کاملPhenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation.
BACKGROUND Myotonia congenita (MC), whether inherited in autosomal dominant or recessive form, is caused by mutation of CLCN1 on chromosome 7 and associated with impaired skeletal muscle relaxation after contraction. The basic pathophysiology is the reduction of chloride conductance in skeletal muscles caused by various molecular mechanisms. The cause of the wide phenotypic variability in both ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 1999
ISSN: 1059-7794,1098-1004
DOI: 10.1002/(sici)1098-1004(199911)14:5<447::aid-humu13>3.0.co;2-z