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Article

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

American journal of human genetics - 9 Mar 2012

Spiegel Ronen, Pines Ophry, Ta-Shma Asaf, Burak Efrat, Shaag Avraham, Halvardson Jonatan, Edvardson Shimon, Mahajna Muhammad, Zenvirt Shamir, Saada Ann, Shalev Stavit, Feuk Lars, Elpeleg Orly

Abstract excerpt

Degeneration of the cerebrum, cerebellum, and retina in infancy is part of the clinical spectrum of lysosomal storage disorders, mitochondrial respiratory chain defects, carbohydrate glycosylation defects, and infantile neuroaxonal dystrophy. We studied eight individuals from two unrelated famili...

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Source

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Identifiers

PMID: 22405087
DOI: 10.1016/j.ajhg.2012.01.009
PMCID: PMC3309186

Genes

ACO2
ACO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22405087-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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