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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Miyoshi myopathy


Other Names for this Disease

  • Miyoshi distal myopathy
  • MM
  • Muscular dystrophy, distal, late onset, autosomal recessive
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Cause

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What causes Miyoshi myopathy?

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.[1] 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

References
  1. I. PĂ©nisson-Besnier. Miyoshi myopathy. Orphanet. April 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=45448. Accessed 4/4/2011.


Other Names for this Disease
  • Miyoshi distal myopathy
  • MM
  • Muscular dystrophy, distal, late onset, autosomal recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.