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Limb girdle muscular dystrophy type 2A presenting with cardiac arrest

✍ Scribed by Eray Di̇ri̇k; Adem Aydin; Semra Kurul; Barış Şahi̇n


Book ID
117590851
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
43 KB
Volume
24
Category
Article
ISSN
0887-8994

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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