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

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

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology