Suomalainen A, Paetau A, Leinonen H, Majander A, Peltonen L, Somer H
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Lancet. 1992 Nov 28;340(8831):1319-20. doi: 10.1016/0140-6736(92)92496-3.
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.
