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Article

MELAS syndrome: correlation between clinical features and molecular genetic analysis.

Acta neurologica Scandinavica - 1 Nov 1994

Liou C W, Huang C C, Chee E C, Jong Y J, Tsai J L, Pang C Y, Lee H C, Wei Y H

Abstract excerpt

The clinical manifestations and mitochondrial DNA (mtDNA) mutations in a Taiwanese family with a female proband exhibiting mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome are reported. Clinically, the proband had a stroke-like episode with right hemiparesis, hemianopsia and mental dysfunction as well as short stature, hearing impairments, and elevated lactate levels....

Topics

Adult
Biopsy
DNA, Mitochondrial
Female
Humans
Inclusion Bodies
MELAS Syndrome
Magnetic Resonance Imaging
Microscopy, Electron
Mitochondria, Muscle
Muscles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Neurologic Examination

Pedigree

Phenotype

Source

Identifiers

PMID: 7887136
DOI: 10.1111/j.1600-0404.1994.tb02737.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7887136-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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