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Article

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.

Molecular genetics and metabolism - 1 Jan 2000

Leary Scot C, Mattman Andre, Wai Timothy, Koehn David C, Clarke Lorne A, Chan Suzanne, Lomax Brenda, Eydoux Patrice, Vallance Hilary D, Shoubridge Eric A

Abstract excerpt

Mutations in SCO2, a metallochaperone involved in mitochondrial copper delivery, are associated with early onset, fatal hypertrophic cardiomyopathy. All reported patients carry at least one copy of the common 1541G>A (E140K) mutation. Whereas patients with one copy of the E140K allele, in combina...

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Source

Identifiers

PMID: 16765077
DOI: 10.1016/j.ymgme.2006.04.016

Genes

SCO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16765077-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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