Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen’s disease
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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...
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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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BACKGROUND Mutations in the parkin gene (PRKN) cause autosomal recessive early-onset Parkinson disease (EOPD). OBJECTIVE To investigate the presence of mutations in the PRKN gene in a white family with EOPD and the genotype-phenotype correlations. DESIGN Twenty members belonging to 3 generations of the EOPD family with 4 affected subjects underwent genetic analysis. Direct genomic DNA seque...
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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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Seok Joon Shin, M.D., Myungshin Kim, M.D., Hyojin Chae, M.D., Ahlm Kwon, M.T., Yonggoo Kim, M.D., Sung Jun Kim, M.D., Hye Eun Yoon, M.D., Dong Wook Jekarl, M.D., and Seungok Lee, M.D. Division of Nephrology, Department of Internal Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul; Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, Th...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2013
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.53.316