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Mutation testing in UTP

✍ Scribed by Bernhard K. Aichernig; He Jifeng


Publisher
Springer
Year
2008
Tongue
English
Weight
561 KB
Volume
21
Category
Article
ISSN
0934-5043

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Limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) is caused by mutations in the CAPN3 gene encoding for calpain-3, a muscle specific protease. While a large number of CAPN3 gene mutations have already been described in calpainopathy patients, the diagnosis has recently shifted from molecular ge