The molecular genetics of mitochondrial cytopathies: the Melbourne experience.

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Article

The molecular genetics of mitochondrial cytopathies: the Melbourne experience.

Clinical and experimental neurology - 1 Jan 1992

Thyagarajan D, Byrne E, Dennet X, Marzuki S

Abstract excerpt

Mitochondrial DNA is a unique, maternally inherited molecule encoding several subunits of the respiratory enzyme chain. In several mitochondrial cytopathies mutations have been described in this genome viz. large-scale heteroplasmic deletions in syndromes with progressive external ophthalmoplegia...

Topics

Base Sequence
Blotting, Southern
DNA, Mitochondrial
Gene Deletion
Humans
MELAS Syndrome
MERRF Syndrome
Molecular Biology
Molecular Sequence Data
Mutation
Ophthalmoplegia, Chronic Progressive External
Phylogeny
Point Mutation
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid

Source

Open in PubMed

Identifiers

PMID: 1343860

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1343860-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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