کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6006855 1184746 2013 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
پیش نمایش صفحه اول مقاله
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy
چکیده انگلیسی

ObjectiveDysferlinopathies belong to heterogeneous group of autosomal recessive muscular disorders caused by mutations in the gene encoding dysferlin. The classifications of the dysferlinopathies mainly include limb-girdle muscular dystrophy 2B (LGMD2B) with predominantly proximal weakness, Miyoshi myopathy (MM) with calf muscle weakness and atrophy, and distal myopathy with anterior tibial onset (DMAT) with tibialis muscle atrophy. We describe the genetic character of dysferlinopathies in a group of Chinese patients.MethodsDYSF mutations screening were done after muscle biopsy and immunohistochemical staining.ResultsEight patients showed an absence or drastic decrease of dysferlin expression in biopsied muscle. We identified 6 different mutations, including one nonsense mutation, two insertion mutation, two deletion mutations and one splice site mutation. Five of them were novel mutations.ConclusionWe described 8 Chinese patients with dysferlinopathy (four had a distal phenotype of MM; one had a phenotype of DMAT and three presented with LGMD2B). It is the first report of genetic confirmed DMAT in China. Mutations c.3112C>T and c.1045dup, may be recurrent mutations in China.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Neurology and Neurosurgery - Volume 115, Issue 8, August 2013, Pages 1234-1237
نویسندگان
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