Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Brain

Volumn 135, Issue 11, 2012, Pages 3404-3415

  Ronchi, Dario ^a   Garone, Caterina ^b,c,h   Bordoni, Andreina ^a   Gutierrez Rios, Purificacion ^b   Calvo, Sarah E ^d,e,f   Ripolone, Michela ^a   Ranieri, Michela ^a   Rizzuti, Mafalda ^a   Villa, Luisa ^a   Magri, Francesca ^a   Corti, Stefania ^a   Bresolin, Nereo ^a,g   Mootha, Vamsi K ^d,e,f   Moggio, Maurizio ^a   Dimauro, Salvatore ^b   Comi, Giacomo P ^a   Sciacco, Monica ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b NewYork Presbyterian Hospital   (United States)

^c UNIVERSITY OF TURIN   (Italy)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^g SCIENTIFIC INSTITUTE   (Italy)

^h UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

autosomal recessive progressive external ophthalmoplegia; DGUOK; mitochondrial DNA instability; multiple mitochondrial DNA deletions

Indexed keywords

DEOXYRIBONUCLEOTIDE; DGUOK PROTEIN; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; ELECTROMYOGRAPHY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; HUMAN TISSUE; MALE; MILD COGNITIVE IMPAIRMENT; MITOCHONDRIAL MYOPATHY; MUSCLE CONTRACTION; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN METABOLISM; PROTEIN STABILITY; PTOSIS; RHABDOMYOLYSIS;

EID: 84870180452     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws258     Document Type: Article

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