Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

doi:10.1016/0006-291x(91)91497-z

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Article

Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Biochemical and biophysical research communications - 31 Jan 1991

Tanaka M, Ino H, Ohno K, Ohbayashi T, Ikebe S, Sano T, Ichiki T, Kobayashi M, Wada Y, Ozawa T

Abstract excerpt

The total sequences of mitochondrial DNA were determined in two patients with juvenile-onset mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) due to Complex I deficiency. Patients 1 and 2 had three and two unique point mutations, respectively, causing repl...

Topics

Adolescent
Amino Acid Sequence
Base Composition
Base Sequence
DNA, Mitochondrial
Female
Humans
Male
Metabolism, Inborn Errors
Mitochondria, Muscle
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

NAD(P)H Dehydrogenase (Quinone)

Nucleic Acid Conformation

Oligonucleotide Probes

Quinone Reductases

RNA, Transfer, Leu

Syndrome

Source

Open in PubMed

Identifiers

PMID: 1899574
DOI: 10.1016/0006-291x(91)91497-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1899574-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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