Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome.

doi:10.1016/s0960-8966(06)80003-9

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Article

Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome.

Neuromuscular disorders : NMD - 1 Jan 1992

Lombès A, Diaz C, Romero N B, Ziegler F, Fardeau M

Abstract excerpt

MERRF (Myoclonic Epilepsy and Ragged-Red Fibres) syndrome is one of the maternally inherited diseases for which a mitochondrial DNA (mtDNA) point mutation has recently been identified. The mutation is always heteroplasmic, that is normal and mutant mtDNA coexist within the same individual. We studied mtDNA heteroplasmy in two families with MERRF syndrome, using a denaturing gradient gel electrophoresis technique...

Topics

Adolescent
Adult
Aged
Base Sequence
Child
DNA Mutational Analysis
DNA, Mitochondrial
Electrophoresis
Female
Histocytochemistry
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

MERRF Syndrome

Male

Molecular Sequence Data

Muscles

Nucleic Acid Denaturation

Phenotype

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 1300181
DOI: 10.1016/s0960-8966(06)80003-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1300181-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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