Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies
β Scribed by Hess, John F.; Parisi, Melissa A.; Bennett, Jeffrey L.; Clayton, David A.
- Book ID
- 109777016
- Publisher
- Nature Publishing Group
- Year
- 1991
- Tongue
- English
- Weight
- 845 KB
- Volume
- 351
- Category
- Article
- ISSN
- 0028-0836
- DOI
- 10.1038/351236a0
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The mitochondrial DNA (mtDNA) of Japanese patients suffering from the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) exhibits a specific heteroplasmic A----G transition in the tRNA(Leu) at position 3243. In this study, we investigated mtDNA from
The A to G transition at nt.3243 of the tRNA Leu(UUR) gene of mtDNA, commonly associated with MELAS, was detected in several members of a family affected by a maternally inherited form of hypertrophic cardiomyopathy. These findings suggest adding cardiomyopathy in the list of phenotypes associated w