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Article

Evidence from human oocytes for a genetic bottleneck in an mtDNA disease.

American journal of human genetics - 1 Sept 1998

Marchington D R, Macaulay V, Hartshorne G M, Barlow D, Poulton J

Abstract excerpt

We have examined oocytes from a patient with Kearn-Sayre syndrome caused by mtDNA rearrangements. In mtDNA diseases, mutant and wild-type mtDNA frequently coexist in affected individuals (the condition of heteroplasmy). The proportion of mutant mtDNA transmitted from mother to offspring is variable because of a genetic bottleneck, and the "dose" of mutant mtDNA received influences the severity of the phenotype....

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

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Source

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Identifiers

PMID: 9718339
DOI: 10.1086/302009
PMCID: PMC1377397

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evidence from human oocytes for a genetic bottleneck in an mtDNA disease.PMID 9718339Read ↗

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