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Prenatal diagnosis of limb-girdle muscular dystrophy type 2C

✍ Scribed by P. Dinçer; F. Piccolo; F. Leturcq; J. C. Kaplan; M. Jeanpierre; H. Topaloǧlu

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
139 KB
Volume
18
Category
Article
ISSN
0197-3851

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✦ Synopsis

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 and prenatal diagnosis was successfully provided. This is the first prenatal diagnosis of LGMD2C.

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