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  • Title: Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
    Author: Kramerova I, Beckmann JS, Spencer MJ.
    Journal: Biochim Biophys Acta; 2007 Feb; 1772(2):128-44. PubMed ID: 16934440.
    Abstract:
    Limb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpain 3 protease. Mutations in this disease are inherited in an autosomal recessive fashion and result in progressive proximal skeletal muscle wasting but no cardiac abnormalities. Calpain 3 has been shown to proteolytically cleave a wide variety of cytoskeletal and myofibrillar proteins and to act upstream of the ubiquitin-proteasome pathway. In this review, we summarize the known biochemical and physiological features of calpain 3 and hypothesize why mutations result in disease.
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