Article
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age.
Neurology - 12 Mar 2002
Tajsharghi H, Thornell L-E, Darin N, Martinsson T, Kyllerman M, Wahlström J, Oldfors A
Abstract excerpt
BACKGROUND: The authors recently described a new autosomal dominant myopathy (OMIM 605637 inclusion body myopathy 3) associated with a missense mutation in the myosin heavy chain (MyHC) IIa gene (MyHC IIa, Human Gene Map [HGM] locus MYH2). Young patients showed minor changes in their muscle biops...
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