کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1915763 1535194 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Paternal inheritance or a de novo mutation in a Duchenne Muscular Dystrophy pedigree from South India
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Paternal inheritance or a de novo mutation in a Duchenne Muscular Dystrophy pedigree from South India
چکیده انگلیسی
A six year old boy presented with classical features of Duchenne Muscular Dystrophy (DMD) and was confirmed by absent dystrophin staining on muscle biopsy. In the paternal line there were 5 affected individuals across two generations with classical DMD. There was no family history of the illness in the maternal line. Molecular genetics analysis by PCR of the exons showed a deletion in exon 45 in two affected individuals. Microsatellite analysis showed that though the deletion was observed in the same locus in exon 45 it is a new independent mutation.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 268, Issues 1–2, 15 May 2008, Pages 179-182
نویسندگان
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