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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA.

Idiopathic dilated cardiomyopathy (DCM) is often familial, but the pathogenetic mechanisms of DCM are unknown. We report a woman and her son who both died of DCM. The son's cardiac and skeletal muscles showed a high proportion of mitochondrial DNA (mtDNA) with multiple large deletions by Southern-blot hybridisation and polymerase chain reaction analyses. Amplification of the mother's cardiac mtDNA from 20-year-old paraffin-embedded sections showed that she also had deletions of mtDNA. These data suggest that a subgroup of inherited DCMs is associated with mtDNA mutations.[1]

References

  1. Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Suomalainen, A., Paetau, A., Leinonen, H., Majander, A., Peltonen, L., Somer, H. Lancet (1992) [Pubmed]
 
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