• Biochim. Biophys. Acta · Feb 2007

    Review

    Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).

    • Irina Kramerova, Jacques S Beckmann, and Melissa J Spencer.
    • Department of Neurology and Pediatrics and UCLA Duchenne Muscular Dystrophy Research Center, University of California, Los Angeles, Neuroscience Research Building, 635 Young Dr. South, Los Angeles, CA 90095-7334, USA.
    • Biochim. Biophys. Acta. 2007 Feb 1; 1772 (2): 128-44.

    AbstractLimb 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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