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Article

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Journal of medical genetics - 1 Feb 2016

Spiegel Ronen, Saada Ann, Flannery Padraig J, Burté Florence, Soiferman Devorah, Khayat Morad, Eisner Verónica, Vladovski Eugene, Taylor Robert W, Bindoff Laurence A, Shaag Avraham, Mandel Hanna, Schuler-Furman Ora, Shalev Stavit A, Elpeleg Orly, Yu-Wai-Man Patrick

Abstract excerpt

BACKGROUND: Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. OBJECTIVE: To identify the causative genetic defect in two sisters presenting with lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. METHODS: We describe a...

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Source

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Identifiers

PMID: 26561570
DOI: 10.1136/jmedgenet-2015-103361
PMCID: PMC4752660

Genes

OPA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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