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Article

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.

Journal of child neurology - 1 Feb 2017

Garone Caterina, Gurgel-Giannetti Juliana, Sanna-Cherchi Simone, Krishna Sindu, Naini Ali, Quinzii Catarina M, Hirano Michio

Abstract excerpt

SUCLA2 defects have been associated with mitochondrial DNA (mtDNA) depletion and the triad of hypotonia, dystonia/Leigh-like syndrome, and deafness. A 9-year-old Brazilian boy of consanguineous parents presented with psychomotor delay, deafness, myopathy, ataxia, and chorea. Despite the prominent movement disorder, brain magnetic resonance imaging (MRI) was normal while 1H-magnetic resonance spectroscopy (MRS)...

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Source

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Identifiers

PMID: 27651038
DOI: 10.1177/0883073816666221
PMCID: PMC6815879

Genes

SUCLA2

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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