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Article

Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?

American journal of medical genetics - 1 Dec 1991

Moraes C T, Zeviani M, Schon E A, Hickman R O, Vlcek B W, DiMauro S

Abstract excerpt

Lowe oculocerebrorenal syndrome is an X-linked recessive disease whose locus has been assigned to Xp25. However, several reports of affected females without obvious chromosomal abnormalities suggest genetic heterogeneity of the Lowe phenotype. Although the biochemical defect in typical Lowe syndrome is not known, there is evidence suggesting that mitochondrial metabolism may be impaired. We have studied a girl...

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PMID: 1789283
DOI: 10.1002/ajmg.1320410308

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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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