Article

ELAC2-Related Mitochondrial Cardiomyopathy with Marked Hyperprolinemia: A Case Report

2026-06-05

Abstract excerpt

<title>Abstract</title> <p>Mitochondrial dysfunction is a recognized cause of early-onset cardiomyopathy. Mutations in ELAC2, encoding mitochondrial RNase Z, disrupt mitochondrial mt-tRNA processing and impair oxidative phosphorylation, resulting in combined oxidative phosphorylation deficiency type 17. We report a 2-month-old female infant with a homozygous ELAC2 variant who presented with acute dilated cardiomy...

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Literature Corpus work: f107f601-84d2-53d2-863a-9011e47af9ad
DOI: 10.21203/rs.3.rs-9621984/v1

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