Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome).
نویسندگان
چکیده
DNA extraction and Southern blot analysis of two cases of McLeod's syndrome showed restriction fragments identical to normal controls using probes from the Xp21 (1-2) region, in contrast to striking deletions found in two other McLeod phenotypes studied in the USA. The McLeod locus is adjacent to Duchenne muscular dystrophy (DMD) and dystrophin immunocytochemistry showed that expression is normal in muscle from the two McLeod cases in spite of the mild DMD-like myopathy.
منابع مشابه
Repression-free utrophin-A 5’UTR variants
Mutation in the dystrophin gene results Duchenne Muscular Dystrophy (DMD), an X-linked fatal neuromuscular disorder. Dystrophin deficiency can be compensated by upregulation of utrophin, an autosomal homologue of dystrophin. But the expression of utrophin in adults is restricted to myotendinous and neuromuscular junctions. Therefore utrophin upregulation throughout the muscle fiber can only be ...
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عنوان ژورنال:
- Journal of medical genetics
دوره 27 6 شماره
صفحات -
تاریخ انتشار 1990