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O.22 Dominant inheritance of limb girdle muscular dystrophy type 2A

✍ Scribed by J. Vissing; M.L. Sveen; M. Duno

Book ID
116794928
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
46 KB
Volume
21
Category
Article
ISSN
0960-8966

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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