Dysferlin
From Wikipedia, the free encyclopedia
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dysferlin
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| Identifiers | |
| Symbol | DYSF LGMD2B |
| HUGO | 3097 |
| Entrez | 8291 |
| OMIM | 603009 |
| RefSeq | NM_003494 |
| UniProt | O75923 |
| Other data | |
| Locus | Chr. 2 p13 |
Dysferlin is a protein linked with skeletal muscle repair. A defect in the dysferlin gene, chromosome location 2p12-14, results in either of two types of muscular dystrophy; Miyoshi myopathy (MM) and Limb-girdle muscular dystrophy type 2B (LGMD2B). A reduction or absence of dysferlin usually becomes apparent in the third or forth decade of life and is charaterised by weakness and wasting of various voluntary skeletal muscles.
The Jain Foundation Inc. (www.jain-foundation.org) is foccused on finding a cure for this specific disease. The foundation is sponsoring targeted research and helping educate the patients on the importance of determining the mutations in their dysferlin gene.
