Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression
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...
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15 صفحه اولبررسی جهش در اگزون 8 ژن CLCN1 در بیماران ایرانی مبتلا به میوتونی غیر دیستروفیک
Background: Non-dystrophy myotonias (NDMs) have similar clinical signs of muscle weakness and congenital myotoniais typical example. This disease is caused by mutations in CLCN1 gene. CLCN1 gene has 23 exons and exon 8 is hotspot. Mutations in skeletal muscle chloride channel gene are associated with a group of clinically overlapping diseases by alterations in the excitability of the sarcolemma...
متن کاملA 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...
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: Human Mutation
سال: 2004
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.9260