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Article

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

Biochemical and biophysical research communications - 31 Dec 1990

Kobayashi Y, Momoi M Y, Tominaga K, Momoi T, Nihei K, Yanagisawa M, Kagawa Y, Ohta S

Abstract excerpt

Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episode (MELAS) is a major group of heterogeneous mitochondrial disorders. To identify the defective gene, mitochondrial DNA from a patient with MELAS was sequenced by using amplified DNA fragments as sequencing templates. In 14.1 kbp determined out of 16.6 kbp of the whole mitochondrial gene, at least 21 nucleotides were different from those...

Topics

Acidosis, Lactic
Base Sequence
Brain Diseases
Cell Line
Cerebrovascular Disorders
Child
DNA, Mitochondrial
Female
Humans
Mitochondria
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nucleic Acid Conformation

RNA, Transfer, Leu

Source

Identifiers

PMID: 2268345
DOI: 10.1016/s0006-291x(05)80860-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2268345-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).PMID 2268345Read ↗

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