## ~~ 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
MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions
β Scribed by Sharon Aharoni; Teres A. Traves; Eldad Melamed; Sarit Cohen; Esther Leshinsky Silver
- Book ID
- 119303786
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 422 KB
- Volume
- 296
- Category
- Article
- ISSN
- 0022-510X
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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 describe a family which demonstrates and expands the extreme clinical variabilty now known to be associated with the A+G transition at nucleotide position 3243 of the mitochondrial DNA. The propositus presented at birth with clinical manifestations consistent with diabetic embryopathy including a