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Gene Review

MYH8  -  myosin, heavy chain 8, skeletal muscle,...

Homo sapiens

Synonyms: MyHC-peri, MyHC-perinatal, MyHC-pn, Myosin heavy chain 8, Myosin heavy chain, skeletal muscle, perinatal, ...
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Disease relevance of MYH8

  • CONCLUSIONS: We describe a novel heart-hand syndrome involving familial cardiac myxomas and distal arthrogryposis and demonstrate that these disorders are caused by a founder mutation in the MYH8 gene [1].
  • We identified nonsynonymous MYH8 polymorphisms in patients with cardiac myxoma syndromes but without arthrogryposis [1].
  • Further genetic studies in human beings have highlighted novel variant phenotypes, such as congenital contractures, which are potentially associated with Carney complex, and have identified alternative genetic pathways to cardiac tumorigenesis, including mutation of the MYH8 gene that encodes perinatal myosin [2].

High impact information on MYH8


  1. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. Veugelers, M., Bressan, M., McDermott, D.A., Weremowicz, S., Morton, C.C., Mabry, C.C., Lefaivre, J.F., Zunamon, A., Destree, A., Chaudron, J.M., Basson, C.T. N. Engl. J. Med. (2004) [Pubmed]
  2. Clinical phenotypes and molecular genetic mechanisms of Carney complex. Wilkes, D., McDermott, D.A., Basson, C.T. The lancet oncology. (2005) [Pubmed]
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