Article
A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings.
Molecular genetics & genomic medicine - 1 Jul 2026
Alsharhan Hind, Alostad Worood, Ali Alshaymaa A, Ebrahim Mohammad A, Mohammed Hesham A F, Alahmad Ahmad, Alhashemi Hashem, Hassan Walid M, Alhaj Ahmad E M S, Alsafi Rasha M, Albash Buthaina
Abstract excerpt
BACKGROUND: Infantile-onset cardiomyopathy due to mitochondrial dysfunction is a severe condition frequently associated with poor prognosis. Biallelic pathogenic variants in ELAC2, an essential mitochondrial tRNA processing gene, have been implicated in this phenotype. This study investigates the clinical and genetic spectrum of ELAC2-related disease in a national cohort from Kuwait. METHODS: We conducted a...
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