INHERITED IDIOPATHIC DILATED CARDIOMYOPATHY WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA

被引：135

作者：

SUOMALAINEN, A

PAETAU, A

LEINONEN, H

MAJANDER, A

PELTONEN, L

SOMER, H

机构：

[1] UNIV HELSINKI, DEPT PATHOL, SF-00100 HELSINKI 10, FINLAND

[2] UNIV HELSINKI, DEPT MED 1, SF-00100 HELSINKI 10, FINLAND

[3] UNIV HELSINKI, DEPT MED CHEM, SF-00100 HELSINKI 10, FINLAND

[4] UNIV HELSINKI, DEPT NEUROL, SF-00100 HELSINKI 10, FINLAND

来源：

LANCET | 1992年 / 340卷 / 8831期

关键词：

D O I：

10.1016/0140-6736(92)92496-3

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

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页码：1319 / 1320

页数：2

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