Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.


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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@article{Overeem2007SymptomaticDM, title={Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.}, author={Sebastiaan Overeem and Helenius Jurgen Schelhaas and Paul J Blijham and M. I. Grootscholten and Henk J ter Laak and Janneke Timmermans and Arthur van den Wijngaard and Machiel J. Zwarts}, journal={Neuromuscular disorders : NMD}, year={2007}, volume={17 6}, pages={490-3} }