Home > A. Molecular pathology > DYSF
DYSF
MIM.603209 Locus: 2p13
Thursday 22 April 2004
The discovery of dysferlin revealed a new family of proteins, known as the ferlin family, which includes four different genes.
Function
Recent work suggests the function of dysferlin in membrane repair and demonstrates that defective membrane repair is a novel mechanism of muscle degeneration.
These findings reveal the importance of a basic cellular function in skeletal muscle and a new class of muscular dystrophy where the defect lies in the maintenance, not the structure, of the plasma membrane.
Pathology (dysferlinopathies)
dysferlin deficiency (dyferlin-associated myopathy)
- germline mutations in autosomal recessive limb-girdle muscular dystrophy (type 2B) (LGMD2B) (MIM.253601)
- germline mutations in Miyoshi myopathy (MIM.254130)
References
Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol. 2004 Apr;14(4):206-13. PMID: 15066638