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Gene Review

MYH3  -  myosin, heavy chain 3, skeletal muscle,...

Homo sapiens

Synonyms: HEMHC, MYHC-EMB, MYHSE1, Muscle embryonic myosin heavy chain, Myosin heavy chain 3, ...
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Disease relevance of MYH3

  • Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-third of all cases of Sheldon-Hall syndrome (SHS), the most common distal arthrogryposis [1].
  • MYH3 was 10.9 times underexpressed in patients with pelvic organ prolapse compared to controls (P = .027) [2].

High impact information on MYH3


Biological context of MYH3


  1. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Toydemir, R.M., Rutherford, A., Whitby, F.G., Jorde, L.B., Carey, J.C., Bamshad, M.J. Nat. Genet. (2006) [Pubmed]
  2. Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse. Hundley, A.F., Yuan, L., Visco, A.G. Am. J. Obstet. Gynecol. (2006) [Pubmed]
  3. Physical and transcript map of the minimally deleted region III on 17p implicated in the early development of Barrett's oesophageal adenocarcinoma. Dunn, J.R., Risk, J.M., Langan, J.E., Marlee, D., Ellis, A., Campbell, F., Watson, A.J., Field, J.K. Oncogene (2003) [Pubmed]
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