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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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Inheritance

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How is Miyoshi myopathy inherited?

Miyoshi myopathy is inherited in an autosomal recessive manner.[1] Individuals have two copies of each gene (one copy inherited from each parent). In an individual affected with an autosomal recessive condition, both copies of the responsible gene have mutations. This means that each of the parents of an affected individual carry one mutated copy of the gene, and are therefore referred to as "carriers." Carriers of an autosomal recessive condition typically do not show signs or symptoms of the condition. When two carriers for the same condition have children together, each child has a 1 in 4 (25%) risk to have the condition, a 1 in 2 (50%) risk to be a carrier like each of the parents, and a 1 in 4 chance to not have the condition and not be a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known.
Last updated: 6/6/2011

References
  1. Masashi Aoki. Dysferlinopathy. GeneReviews. April 22, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1303/. 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.