کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6282083 1615133 2014 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Novel RYR1 missense mutations in six Chinese patients with central core disease
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب (عمومی)
پیش نمایش صفحه اول مقاله
Novel RYR1 missense mutations in six Chinese patients with central core disease
چکیده انگلیسی
Central core disease (CCD) is a genetically heterogeneous congenital myopathy, and ryanodine receptor 1 (RYR1, gene ID6261) is the only pathogenicity gene until now. Data on mutation characteristics of RYR1 in the Chinese CCD population are scarce. This study searched for mutations in the C-terminal-encoding domain of RYR1 in six Chinese patients with CCD, and identified five missense mutations (N4807F, R4861H, R4893P, G4897D, and I4898T). Among them, N4807F, G4897D were novel while R4861H, R4893P, and I4898T were previously reported. All missense mutations were highly conserved across the species of human, mouse, rabbit, fish, and pig. This study found that mutations could be identified in about 85% CCD patients, even if only the C-terminal-encoding region of RYR1 was screened. Many mutations clustered in exons 100-102.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuroscience Letters - Volume 566, 30 April 2014, Pages 32-35
نویسندگان
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