title: Leigh disease due to SCO2 mutations revealed at extended autopsy.
authors.affiliation: Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Tamara
authors.initials: T
authors.lastname: Szymanska-Debinska
authors.affiliation: Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Karkucinska-Wieckowska
authors.affiliation: Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Piekutowska-Abramczuk
authors.affiliation: Department of Nuclear Medicine, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Jurkiewicz
authors.affiliation: Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Iwanicka-Pronicka
authors.affiliation: Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Dariusz
authors.initials: D
authors.lastname: Rokicki
authors.affiliation: Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Pronicki
mesh_terms: D001344:Autopsy; D015415:Biomarkers / Q000032:analysis; D001921:Brain / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008099:Liver / Q000737:chemistry; D008297:Male; D024101:Mitochondrial Proteins / Q000172:deficiency / Q000235:genetics*; D018832:Molecular Chaperones; D018482:Muscle, Skeletal / Q000737:chemistry; D009154:Mutation; D009206:Myocardium / Q000473:pathology; D010641:Phenotype
chemical_list: D015415:Biomarkers; D002352:Carrier Proteins; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; C400285:SCO2 protein, human
keywords: AUTOPSY PATHOLOGY; NEUROPATHOLOGY; POSTMORTEM