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

Research output: Contribution to journalArticlepeer-review

91 Scopus citations

Fingerprint

Dive into the research topics of 'Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation'. Together they form a unique fingerprint.

Keyphrases

Biochemistry, Genetics and Molecular Biology