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Genetic and Rare Diseases Information Center (GARD)

Myostatin-related muscle hypertrophy

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Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.[1][2]
Last updated: 4/20/2016


  1. Myostatin-related muscle hypertrophy. Genetics Home Reference. December 2008;
  2. Wagner KR, Cohen JS. Myostatin-Related Muscle Hypertrophy. GeneReviews. July 3, 2013;
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Basic Information

  • Genetics Home Reference (GHR) contains information on Myostatin-related muscle hypertrophy. This website is maintained by the National Library of Medicine.
  • MedlinePlus provides more information on muscle conditions in general. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.
  • The Neuromuscular Disease Center at Washington University has a online resource that outlines common signs, symptoms, and other features of a variety of muscle conditions, including myostatin-related muscle hypertrophy. Click on the link above to view this information.
  • The National Human Genome Research Institute features an article describing the role mutations in the myostatin (MTSN) gene play in increasing muscle mass and enhancing racing performance in dogs (whippets). To read more about this click on the link above.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Myostatin-related muscle hypertrophy. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.