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An STS map of the limb girdle muscular dystrophy type 2A region

✍ Scribed by I. Richard; C. Roudaut; F. Fougerousse; N. Chiannilkulchai; J. S. Beckmann

Book ID
104736867
Publisher
Springer-Verlag
Year
1995
Tongue
English
Weight
373 KB
Volume
6
Category
Article
ISSN
0938-8990

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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