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Article

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

American journal of human genetics - 1 Apr 1996

Kaukonen J A, Amati P, Suomalainen A, Rötig A, Piscaglia M G, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M

Abstract excerpt

Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, progressive weakness of the external eye muscles, and general muscle weakness. The patients have multiple deletions of mtDNA on Southern blots or in PCR analysis of muscle DNA and a mild deficiency of one or more respiratory-chain enzymes carrying mtDNA-encoded subunits. The pattern of inheritance indicates a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 8644740
PMCID: PMC1914672

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.PMID 8644740Read ↗

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