Article
Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene.
The Journal of clinical investigation - 1 Jan 1999
Fatkin D, Christe M E, Aristizabal O, McConnell B K, Srinivasan S, Schoen F J, Seidman C E, Turnbull D H, Seidman J G
Abstract excerpt
Heterozygous mice bearing an Arg403Gln missense mutation in the alpha cardiac myosin heavy chain gene (alpha-MHC403/+) exhibit the histopathologic features of human familial hypertrophic cardiomyopathy. Surprisingly, homozygous alpha-MHC403/403 mice die by postnatal day 8. Here we report that neonatal lethality is caused by a fulminant dilated cardiomyopathy characterized by myocyte dysfunction and loss. Heart...
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