Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins.

doi:10.1016/0022-510x(92)90021-c

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Article

Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins.

Journal of the neurological sciences - 1 Jul 1992

Penisson-Besnier I, Degoul F, Desnuelle C, Dubas F, Josi K, Emile J, Lestienne P

Abstract excerpt

A new family of myoclonic epilepsy with ragged-red fibers (MERRF) was studied at clinical, histological, biochemical and molecular genetic levels. There was a remarkable variation in the age of onset, the clinical presentation and the severity of symptoms. Multiple defects affecting respiratory chain complexes I, III and IV were detected in 2 patients. The point mutation at 8344 of the mitochondrial genome was...

Topics

Adult
Base Sequence
Cytochromes
DNA, Mitochondrial
Diseases in Twins
Electron Transport Complex II
Electron Transport Complex III
Electron Transport Complex IV
Epilepsies, Myoclonic
Female
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Mitochondria, Muscle

Molecular Sequence Data

Multienzyme Complexes

Mutation

NAD(P)H Dehydrogenase (Quinone)

Source

Open in PubMed

Identifiers

PMID: 1324294
DOI: 10.1016/0022-510x(92)90021-c

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1324294-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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