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

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 pre...

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Dades bibliogràfiques
Publicat a:J Med Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2016
Matèries:
Genotype-Phenotype Correlations
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4752660/
https://ncbi.nlm.nih.gov/pubmed/26561570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103361
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