Citation
P. Dincer et al., Prenatal diagnosis of limb-girdle muscular dystrophy Type 2C, PRENAT DIAG, 18(12), 1998, pp. 1300-1303
Citations number
14
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Journal title
PRENATAL DIAGNOSIS
ISSN journal
01973851
→ ACNP
Volume
18
Issue
12
Year of publication
1998
Pages
1300 - 1303
Database
ISI
SICI code
0197-3851(199812)18:12<1300:PDOLMD>2.0.ZU;2-Q
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 consanguine
ous family and prenatal diagnosis was successfully provided. This is the fi
rst prenatal diagnosis of LGMD2C. Copyright (C) 1998 John Wiley & Sons, Ltd
.