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Article

COXPD9 in an individual from Puerto Rico and literature review.

American journal of medical genetics. Part A - 1 Aug 2021

Alsharhan Hind, Muraresku Colleen, Ganetzky Rebecca D

Abstract excerpt

Defects of mitoribosome assembly with destabilization of mitochondrial ribosomal proteins and subsequent aberrant mitochondrial translation machinery are one of the emerging categories of human mitochondrial disease. Mitochondrial translation deficiency constitutes a growing cause of combined oxidative phosphorylation deficiency and overall causes a set of clinically heterogeneous multi-systemic diseases. We...

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Identifiers

PMID: 34008913
DOI: 10.1002/ajmg.a.62344

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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