Characterization of the eosinophilic myositis caused by CAPN3 mutations on a mouse model


Limb girdle muscular dystrophies (LGMD) are rare genetic diseases causing progressive skeletal muscle weaknesses associated with degeneration. The most common form is LGMD type 2A which affects primarily pelvic and scapular skeletal muscles. This disease, with an autosomal recessive inheritance, is caused by mutations in CAPN3 which encodes a muscle-specific protein, calpain-3. Calpain-3 is a member of the calpains family (intracellular nonlysosomal cysteine proteases) and it is known to bind to a gigantic muscle protein called titin, to have an important key role in the regulation of the sarcomere and physiological functions in skeletal muscle.


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