Article
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
European journal of human genetics : EJHG - 1 Jun 2014
Tajsharghi Homa, Hammans Simon, Lindberg Christopher, Lossos Alexander, Clarke Nigel F, Mazanti Ingrid, Waddell Leigh B, Fellig Yakov, Foulds Nicola, Katifi Haider, Webster Richard, Raheem Olayinka, Udd Bjarne, Argov Zohar, Oldfors Anders
Abstract excerpt
Myosin myopathies comprise a group of inherited diseases caused by mutations in myosin heavy chain (MyHC) genes. Homozygous or compound heterozygous truncating MYH2 mutations have been demonstrated to cause recessive myopathy with ophthalmoplegia, mild-to-moderate muscle weakness and complete lack of type 2A muscle fibers. In this study, we describe for the first time the clinical and morphological...
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