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).
Overeem
S
S
Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. s.overeem@neuro.umcn.nl
Schelhaas
H J
HJ
Blijham
P J
PJ
Grootscholten
M I
MI
ter Laak
H J
HJ
Timmermans
J
J
van den Wijngaard
A
A
Zwarts
M J
MJ
D001706:Biopsy; D024722:Cardiac Myosins / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D049310:Distal Myopathies / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree
C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains