کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1936685 1050699 2007 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes
چکیده انگلیسی

Defects in glycosylation of α-dystroglycan are associated with several forms of muscular dystrophies. Mutations in POMT2 gene have been identified in patients with congenital muscular dystrophy and brain involvement, either characterized by a Walker–Warburg/muscle–eye–brain phenotype, or by microcephaly, mental retardation, and cerebellar hypoplasia.We identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement. Muscle biopsy revealed myopathic and inflammatory changes and severe α-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 363, Issue 4, 30 November 2007, Pages 1033–1037
نویسندگان
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