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Other Names for this Disease
- Miyoshi distal myopathy
- Muscular dystrophy, distal, late onset, autosomal recessive
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Miyoshi myopathy is caused by mutations in the DYSF gene, which encodes the dysferlin protein, a component of muscular fiber membranes. The presence and/or activity of the dysferlin protein is decreased or absent in individuals who have Miyoshi myopathy. This leads to abnormalities in the integrity of the muscle fiber membrane and problems with membrane repair. Mutations in the same gene are also involved in autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B).
Last updated: 4/5/2011
- I. Pénisson-Besnier. Miyoshi myopathy. Orphanet. April 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=45448. Accessed 4/4/2011.