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Article

Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.

Molecular genetics and metabolism - 1 Aug 2021

Friederich Marisa W, Geddes Gabrielle C, Wortmann Saskia B, Punnoose Ann, Wartchow Eric, Knight Kaz M, Prokisch Holger, Creadon-Swindell Geralyn, Mayr Johannes A, Van Hove Johan L K

Abstract excerpt

Cardiac dysfunction is a common phenotypic manifestation of primary mitochondrial disease with multiple nuclear and mitochondrial DNA pathogenic variants as a cause, including disorders of mitochondrial translation. To date, five patients have been described with pathogenic variants in MRPL44, encoding the ml44 protein which is part of the large subunit of the mitochondrial ribosome (mitoribosome). Three...

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Identifiers

PMID: 34140213
DOI: 10.1016/j.ymgme.2021.06.001
PMCID: PMC8289749

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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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