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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Myotonic dystrophy type 2


Other Names for this Disease

  • DM2
  • Dystrophia myotonica type 2
  • Myotonic myopathy, proximal
  • PROMM
  • Proximal myotonic myopathy
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Cause

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What causes myotonic dystrophy type 2?

Mutations in the CNBP gene cause myotonic dystrophy type 2. The exact function of this gene is not known. The protein made by the CNBP gene is mainly found in the heart and in skeletal muscles, where it probably helps regulate the function of other genes.[1]

In people with myotonic dystrophy type 2, a short piece of DNA is abnormally repeated many times, forming an unstable area of the gene. The mutated gene makes an altered version of messenger RNA (mRNA), which is a copy of the gene that is normally used for protein production. The abnormal mRNA forms clumps inside the cell that interfere with the production of many proteins. These changes prevent cells in muscles and other tissues from functioning normally, leading to the signs and symptoms of myotonic dystrophy.[2][1]
Last updated: 2/10/2014

References
  1. Myotonic dystrophy. Genetics Home Reference (GHR). November 2010; http://ghr.nlm.nih.gov/condition=myotonicdystrophy. Accessed 5/11/2011.
  2. Learning About Myotonic Dystrophy. National Human Genome Research Institute (NHGRI). March 23, 2011; http://www.genome.gov/25521207. Accessed 4/8/2012.


Other Names for this Disease
  • DM2
  • Dystrophia myotonica type 2
  • Myotonic myopathy, proximal
  • PROMM
  • Proximal myotonic myopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.