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Article

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

American journal of medical genetics. Part A - 1 Apr 2011

Alfadhel Majid, Lillquist Yolanda P, Waters Paula J, Sinclair Graham, Struys Eduard, McFadden Deborah, Hendson Glenda, Hyams Lauren, Shoffner John, Vallance Hilary D

Abstract excerpt

We describe respiratory chain complex IV deficiency (cytochrome c oxidase deficiency) in a female infant with a neonatal rapidly progressive fatal course characterized by microcephaly, encephalopathy, persistent lactic acidosis, and hypertrophic cardiomyopathy. Postmortem cardiac muscle study showed marked complex IV deficiency. In contrast, complex IV activity was only slightly decreased in the skeletal muscle....

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Source

Identifiers

PMID: 21412973
DOI: 10.1002/ajmg.a.33881

Genes

COX15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Infantile cardioencephalopathy due to a COX15 gene defect: report and review.PMID 21412973Read ↗

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