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  • Title: Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.
    Author: Overeem S, Schelhaas HJ, Blijham PJ, Grootscholten MI, ter Laak HJ, Timmermans J, van den Wijngaard A, Zwarts MJ.
    Journal: Neuromuscul Disord; 2007 Jun; 17(6):490-3. PubMed ID: 17383184.
    Abstract:
    Mutations in the myosin heavy chain gene (MYH7) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic cardiomyopathy (several exons), myosin storage myopathy (exon 37/39) or Laing distal myopathy (exons 32-36). Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).
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