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Iranian Journal of Medical Sciences، جلد ۴۱، شماره ۵، صفحات ۴۵۶-۰
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عنوان انگلیسی A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
چکیده انگلیسی مقاله 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 started in early childhood. We analyzed CLCN1 sequence in this patient and other members of his family. We found a new missense mutation in CLCN1 gene (c.1886T>C, p.Leu629Pro). Co-segregation of this mutation with the disease was demonstrated by direct sequencing of the fragment in affected as well as unaffected members of this family. In addition, in silico analyses predicted that this nucleotide change would impair the protein function. Thus, this new nucleotide variation can be used for prenatal diagnosis in this family.
کلیدواژه‌های انگلیسی مقاله Myotonia congenita, CLCN1 protein, Mutation
نویسندگان مقاله محمد میریونسی | mohammad miryounesi
genomic research center, shahid beheshti university of medical sciences, tehran, iran;

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)

سوده غفوری فرد | soudeh ghafouri fard
department of medical genetics, shahid beheshti university of medical sciences, tehran, iran;

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)

مجید فردایی | majid fardaei
department of medical genetics, shiraz university of medical sciences, shiraz, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)

نشانی اینترنتی http://ijms.sums.ac.ir/index.php/IJMS/article/view/1282
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Case Report(s)
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