Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques
β Scribed by Hanna K. Kolski; Cynthia Hawkins; Mayana Zatz; Flavia De Paula; Doug Biggar; Ben Alman; Jiri Vajsar
- Book ID
- 108958010
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 186 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0919-6544
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Ninety-seven muscle biopsies from 81 limb girdle muscular dystrophy (LGMD) patients [32 autosomal recessive (AR), 15 autosomal dominant (AD), 34 sporadic] were morphologically reevaluated. Sarcoglycan analysis was done in 37 available muscle biopsies of AR and sporadic patients. Chi-square tests wer
After studies which have mapped the -sarcoglycan deficient limb-girdle muscular dystrophy (LGMD2C) to chromosome 13q12 and recent identification of mutations within this gene, prenatal diagnosis has become possible. The deletion of exon 5 in the -sarcoglycan gene was found in a consanguineous family