[5] Dysferlin is linked with plasma membrane repair.,[6] stabilization of calcium signaling[7][8][9] and the development of the T-tubule system of the muscle[10] A defect in the DYSF gene, located on chromosome 2p12-14, results in several types of muscular dystrophy; including Miyoshi myopathy (MM), Limb-girdle muscular dystrophy type 2B (LGMD2B) and Distal Myopathy (DM).

A reduction or absence of dysferlin, termed dysferlinopathy, usually becomes apparent in the third or fourth decade of life and is characterised by weakness and wasting of various voluntary skeletal muscles.

[22] The most intensively studied role for dysferlin is in a cellular process called membrane repair.

Dysferlin is highly expressed in muscle, and is homologous to the ferlin family of proteins, which are thought to regulate membrane fusion across a wide variety of species and cell types.

[27] Furthermore, live-cell imaging of dysferlin-eGFP expressing myotubes indicates that dysferlin localizes to a cellular compartment that responds to injury by forming large dysferlin-containing vesicles, and formation of these vesicles may contribute to wound repair.

Destabilization of signaling in dysferlinopathic muscle can result in the generation of calcium waves,[33] which can contribute to the disease pathology.

Nearly every change in dysferlin that affects membrane repair also destabilizes calcium signaling,[34] suggesting that these two activities are closely linked.