COXPD Knowledge Base

Academic Publications

Hungry for insights? Browse this selection of academic articles!

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

Tippairote et al., Nutrients 14, 4383, 2022

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

Saoura et al., Human Mutation 40, 1731–1748, 2019

Combined Supplementation of Coenzyme Q10 and Other Nutrients in Specific Medical Conditions

Haack et al., The American Journal of Human Genetics 93, 211–223, 2013

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Akawi et al., Orphanet Journal of Rare Diseases 11, 139, 2016

COXPD 17

Treatment Options

The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation

Shinwari et al., Cardiology 137, 188-192, 2017