Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

doi:10.1007/s11033-021-06188-1

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Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Molecular biology reports - 1 Mar 2021

Horga Alejandro, Manole Andreea, Mitchell Alice L, Bugiardini Enrico, Hargreaves Iain P, Mowafi Walied, Bettencourt Conceição, Blakely Emma L, He Langping, Polke James M, Woodward Catherine E, Dalla Rosa Ilaria, Shah Sachit, Pittman Alan M, Quinlivan Ros, Reilly Mary M, Taylor Robert W, Holt Ian J, Hanna Michael G, Pitceathly Robert D S, Spinazzola Antonella, Houlden Henry

Abstract excerpt

Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural protein of the large subunit of the mitochondrial ribosome, have been identified in four patients with OXPHOS defects and early-onset hypertrophic cardiomyopathy with or without...

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PMID: 33742325
DOI: 10.1007/s11033-021-06188-1

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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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