Dysferlinopathy

Dysferlinopathy, also known as qualitative or quantitative defects of dysferlin, is related to muscular dystrophy, limb-girdle, autosomal recessive 1 and creatine phosphokinase, elevated serum. An important gene associated with Dysferlinopathy is DYSF (Dysferlin), and among its related pathways/superpathways are Smooth Muscle Contraction and 13q12.12 copy number variation. The drugs Deflazacort and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and monocytes, and related phenotypes are muscle and homeostasis/metabolism