Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation.

Abstract:

:We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic A to G point mutation in the tRNA(Lys) gene at position 8296. Skeletal muscle pathology revealed typical MELAS findings, including ragged-red fibers cytochrome c oxidase positive strongly succinate dehydrogenase-reactive blood vessels. Recent reports describe the 8296 mutation identified in patients with diabetes mellitus or myoclonus epilepsy with ragged-red fibers, not MELAS. We conclude that the 8296 mutation is likely to be pathogenic and that it may be not only a mutation responsible for diabetes mellitus or myoclonus epilepsy with ragged-red fibers but also for MELAS.

journal_name

Pediatr Neurol

journal_title

Pediatric neurology

authors

Sakuta R,Honzawa S,Murakami N,Goto Y,Nagai T

doi

10.1016/s0887-8994(02)00456-3

subject

Has Abstract

pub_date

2002-11-01 00:00:00

pages

397-400

issue

5

eissn

0887-8994

issn

1873-5150

pii

S0887899402004563

journal_volume

27

pub_type

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