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Article

Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.

American journal of medical genetics. Part A - 15 Mar 2004

Tarnopolsky Mark A, Bourgeois J M, Fu M-H, Kataeva G, Shah J, Simon D K, Mahoney D, Johns D, MacKay N, Robinson B H

Abstract excerpt

Rare cases of suspected spinal muscular atrophy (SMA) have been found to have cytochrome c oxidase (COX) deficiency. To date, four cases with SMA features have been reported in children with mutations in the synthesis of cytochrome oxidase 2 (SCO2) gene. We report a male neonate who was born hypo...

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Source

Identifiers

PMID: 14994243
DOI: 10.1002/ajmg.a.20466

Genes

SCO2
NAIP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14994243-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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