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Article

Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.

Annals of clinical and translational neurology - 1 Mar 2024

Nardecchia Francesca, Carrozzo Rosalba, Innocenti Alice, Torraco Alessandra, Zaccaria Valerio, Rizza Teresa, Pisani Francesco, Bertini Enrico, Leuzzi Vincenzo

Abstract excerpt

INTRODUCTION: COXPD23 is a rare mitochondrial disease caused by biallelic pathogenic variants in GTPBP3. We report on two siblings with a mild phenotype. CASE REPORTS: The young boy presented with global developmental delay, ataxic gait and upper limbs tremor, and the older sister with absence seizures and hypertrophic cardiomyopathy. Respiratory chain impairment was confirmed in muscle. DISCUSSION: Reviewed...

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Identifiers

PMID: 38327089
DOI: 10.1002/acn3.51980
PMCID: PMC10963292

Genes

GTPBP3

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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