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Article

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

Cardiology - 1 Jan 2000

Shinwari Zarghuna M A, Almesned Abdulrahman, Alakhfash Ali, Al-Rashdan Ahmad M, Faqeih Eissa, Al-Humaidi Zainab, Alomrani Ahmed, Alghamdi Malak, Colak Dilek, Alwadai Abdullah, Rababh Monther, Al-Fayyadh Majid, Al-Hassnan Zuhair N

Abstract excerpt

OBJECTIVE: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28441660
DOI: 10.1159/000465516

Genes

ELAC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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