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Article

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.

Brain : a journal of neurology - 1 Mar 2018

Rebelo Adriana P, Saade Dimah, Pereira Claudia V, Farooq Amjad, Huff Tyler C, Abreu Lisa, Moraes Carlos T, Mnatsakanova Diana, Mathews Kathy, Yang Hua, Schon Eric A, Zuchner Stephan, Shy Michael E

Abstract excerpt

Recessive mutations in the mitochondrial copper-binding protein SCO2, cytochrome c oxidase (COX) assembly protein, have been reported in several cases with fatal infantile cardioencephalomyopathy with COX deficiency. Significantly expanding the known phenotypic spectrum, we identified compound heterozygous variants in SCO2 in two unrelated patients with axonal polyneuropathy, also known as Charcot-Marie-Tooth...

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Source

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Identifiers

PMID: 29351582
DOI: 10.1093/brain/awx369
PMCID: PMC5837310

Genes

SCO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.PMID 29351582Read ↗

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