Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.
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SourceNeuromuscular Disorders, 17, 6, (2007), pp. 490-493
Article / Letter to editor
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SubjectDCN 1: Perception and Action; DCN 2: Functional Neurogenomics; UMCN 1.2: Molecular diagnosis, prognosis and monitoring; UMCN 2.1: Heart, lung and circulation; UMCN 3.1: Neuromuscular development and genetic disorders; UMCN 5.1: Genetic defects of metabolism
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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