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Symbol DYSF
Alt. Symbols LGMD2B
Entrez 8291
HUGO 3097
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.[1]

The Jain Foundation Inc. is focused 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.[2]


  1. ^ Leiden University Medical Center, Center for Human and Clinical Genetics - Dysferlin Retrieved 21 June 2007.
  2. ^ Jain Foundation Retrieved 21 June 2007.
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Dysferlin". A list of authors is available in Wikipedia.
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