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Article

Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.

Journal of child neurology - 1 Aug 2017

Srivastava Siddharth, Gubbels Cynthia S, Dies Kira, Fulton Anne, Yu Timothy, Sahin Mustafa

Abstract excerpt

ACO2 encodes aconitase 2, catalyzing the second step of the tricarboxylic acid. To date, there are only 6 reported families with 5 unique ACO2 mutations. Affected individuals can develop intellectual disability, epilepsy, brain atrophy, hypotonia, ataxia, optic atrophy, and retinal degeneration. Here, we report an 18-year-old boy with a novel ACO2 variant discovered on whole-exome sequencing. He presented with...

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Source

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Identifiers

PMID: 28545339
DOI: 10.1177/0883073817711527
PMCID: PMC5515684

Genes

ACO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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