Calpainopathy LGMD2A

Calpain 3 (CAPN 3) is an intracellular muscle specific nonlysosomal cysteine protease with a variety of cytoskeletal and myofibrillar substrates. CAPN 3 is vital for cytoskeletal rearrangements, sarcomere function, remodeling, and apoptosis (Kramerova et al. 2005). Knockout Capn3 -/- mice do not demonstrate any clinical myopathic signs throughout their lifespan. However on histologic examination progressive myopathy is evident. There are central nuclei present as well as areas of inflammatory infiltrates that increase as the animal ages (Fougerousse et al. 2003). This model was used to elucidate the pathophysiology of LGMD2A.

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