Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies.

doi:10.1515/cclm.1990.28.4.241

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Article

Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies.

Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie - 1 Apr 1990

Gerbitz K D, Obermaier-Kusser B, Lestienne P, Zierz S, Müller-Höcker J, Pongratz D, Paetzke-Brunner I, Deufel T

Abstract excerpt

We performed restriction analysis and Southern blotting of the muscle mitochondrial DNA from 34 patients suffering from different myopathies. In 13/21 patients with chronic progressive external ophthalmoplegia the muscle mitochondrial DNA was shown to be heteroplasmic. Further mapping by use of several restriction enzymes yielded large deletions in muscles from 10/13 chronic progressive external ophthalmoplegia...

Topics

Adult
Aged
Biopsy
Blotting, Southern
Brain Diseases, Metabolic
Cells, Cultured
DNA, Mitochondrial
Electron Transport Complex IV
Female
Fibroblasts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genomic Library

Humans

Kearns-Sayre Syndrome

Leigh Disease

Male

Middle Aged

Mitochondria, Muscle

Muscles

Source

Open in PubMed

Identifiers

PMID: 2162908
DOI: 10.1515/cclm.1990.28.4.241

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2162908-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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