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Article

A lethal defect of mitochondrial and peroxisomal fission.

The New England journal of medicine - 26 Apr 2007

Waterham Hans R, Koster Janet, van Roermund Carlo W T, Mooyer Petra A W, Wanders Ronald J A, Leonard James V

Abstract excerpt

We report on a newborn girl with microcephaly, abnormal brain development, optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma concentration of very-long-chain fatty acids. We found a defect of the fission of both mitochondria and peroxisomes, as well as a heterozygous, dominant-negative mutation in the dynamin-like protein 1 gene (DLP1). The DLP1 protein has previously been...

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Identifiers

PMID: 17460227
DOI: 10.1056/NEJMoa064436

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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