A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
โ Scribed by Goto, Yu-ichi; Nonaka, Ikuya; Horai, Satoshi
- Book ID
- 109766758
- Publisher
- Nature Publishing Group
- Year
- 1990
- Tongue
- English
- Weight
- 401 KB
- Volume
- 348
- Category
- Article
- ISSN
- 0028-0836
- DOI
- 10.1038/348651a0
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## ~~ 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
## Communicated by N m n Arnheim We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy: the proband and two siblings had fatal infantile cardiomyopathy, whereas in three maternal relatives the disease manifested later in li