title: [Comparison of clinical pictures of mitochondrial encephalomyopathy with tRNA(Leu(UUR)) mutation in 3243 with that in 3254].
abstract: We compared clinical pictures of a case of mitochondrial encephalomyopathy with tRNA(Leu(UUR)) point mutation at nucleotide position 3254 of mitochondrial DNA with those at position 3243. The mutation 3254 was a 19-year-old male patient with cardiomyopathy accompanied with muscle atrophy. The first mutant 3243 was a 31-year-old female patient showing clinical features of MELAS and endocrinological abnormalities. The second 3243 mutant was a 27-year-old male patient who had an external ophthalmoplegia and slight mental decline. In all cases, muscle biopsy specimen showed ragged red fibers and strongly SDH-reactive blood vessels, but their limb weakness were unremarkable. These results suggest that tRNA(Leu(UUR)) point mutation 3254 exhibits similar clinical phenotypes as those observed in 3243 mutant.
authors.affiliation: Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Mitsuoka
authors.forename: T
authors.initials: T
authors.lastname: Kawarai
authors.forename: C
authors.initials: C
authors.lastname: Watanabe
authors.forename: S
authors.initials: S
authors.lastname: Katayama
authors.forename: S
authors.initials: S
authors.lastname: Nakamura
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics*