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Prenatal diagnosis of limb-girdle muscular dystrophy type 2C
P Dinçer1, F Piccolo, F Leturcq
1Hacettepe University, Faculty of Medicine, Department of Medical Biology, Ankara, Turkey.
Prenatal Diagnosis
|January 13, 1999
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.