کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3081196 1581085 2007 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
چکیده انگلیسی

Mutations in the dystrophin gene give rise to Duchenne and Becker muscular dystrophies (DMD and BMD), in which both skeletal and cardiac muscles are affected, but also to X-linked dilated cardiomyopathy (XLDC), a condition characterised by exclusive cardiac involvement. XLDC patients with mutations at the 5′ end of the gene typically have a cardiac specific severe transcriptional pathology, with absent dystrophin in the heart, while reduced levels of virtually normal dystrophin transcript and protein are present in the skeletal muscle. We now report the identification of a new XLDC family and the detailed characterisation of the levels of dystrophin protein present in skeletal muscle of this family, and of three previously studied XLDC families. We found that dystrophin levels comprised between 29% and 57% were sufficient to avoid muscle weakness in these XLDC families. This information will be of help for the development of therapeutic approaches aimed at restoring dystrophin levels sufficient to prevent the muscle pathology in DMD.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 17, Issues 11–12, December 2007, Pages 913–918
نویسندگان
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