AI Article Synopsis
- Researchers have identified the gamma-sarcoglycan gene mutations linked to limb-girdle muscular dystrophy type 2C (LGMD2C) on chromosome 13q12.
- A specific deletion of exon 5 in this gene was discovered in a consanguineous family.
- This case marks the first successful prenatal diagnosis of LGMD2C.
Article Abstract
After studies which have mapped the gamma-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 gamma-sarcoglycan gene was found in a consanguineous family and prenatal diagnosis was successfully provided. This is the first prenatal diagnosis of LGMD2C.
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| http://dx.doi.org/10.1002/(sici)1097-0223(199812)18:12<1300::aid-pd436>3.0.co;2-h | DOI Listing |
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