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Article

Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.

JAMA neurology - 1 Feb 2013

Gurgel-Giannetti Juliana, Oliveira Guilherme, Brasileiro Filho Geraldo, Martins Poliana, Vainzof Mariz, Hirano Michio

Abstract excerpt

OBJECTIVES: To review all patients with SCO2 mutations and to describe a Brazilian patient with cardioencephalomyopathy carrying compound heterozygous mutations in SCO2, one being the known pathogenic p.E140K mutation and the other a novel 12-base pair (bp) deletion at nucleotides 1519 through 1530 (c.1519_1530del). DESIGN: Case report and literature review. SETTING: University hospital. PATIENT: Infant girl...

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Identifiers

PMID: 23407777
DOI: 10.1001/jamaneurol.2013.595
PMCID: PMC4967497

Genes

SCO2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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