ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

doi:10.1016/j.ajhg.2013.06.006

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Article

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

American journal of human genetics - 8 Aug 2013

Haack Tobias B, Kopajtich Robert, Freisinger Peter, Wieland Thomas, Rorbach Joanna, Nicholls Thomas J, Baruffini Enrico, Walther Anett, Danhauser Katharina, Zimmermann Franz A, Husain Ralf A, Schum Jessica, Mundy Helen, Ferrero Ileana, Strom Tim M, Meitinger Thomas, Taylor Robert W, Minczuk Michal, Mayr Johannes A, Prokisch Holger

Abstract excerpt

The human mitochondrial genome encodes RNA components of its own translational machinery to produce the 13 mitochondrial-encoded subunits of the respiratory chain. Nuclear-encoded gene products are essential for all processes within the organelle, including RNA processing. Transcription of the mitochondrial genome generates large polycistronic transcripts punctuated by the 22 mitochondrial (mt) tRNAs that are...

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Identifiers

PMID: 23849775
DOI: 10.1016/j.ajhg.2013.06.006
PMCID: PMC3738821

Genes

ELAC2

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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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