Article

Mutations in <i>ELAC2</i> associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’-end processing

2018-07-27

Abstract excerpt

Dysfunction of mitochondrial gene expression, caused by mutations in either the mitochondrial or nuclear genomes, is associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA metabolism. For instance, pathogenic mutations have been identified in the...

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Literature Corpus work: 15a44731-36d6-5ea5-ab92-2e6686d76d2a
DOI: 10.1101/378448

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