MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation
โ Scribed by Barbara S. Connolly; Annette S.J. Feigenbaum; Brian H. Robinson; Anne I. Dipchand; David K. Simon; Mark A. Tarnopolsky
- Book ID
- 116300974
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 232 KB
- Volume
- 402
- Category
- Article
- ISSN
- 0006-291X
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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
## ~~ We studied a patient with a rnitochondrial encephalomyopathy characterized by the presence of all the cardinal features of both myoclonic epilepsy and ragged-red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndromes. Muscle biopsy show