Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

Annals of Neurology

Volumn 46, Issue 2, 1999, Pages 161-166

  Tiranti, V ^a   Jaksch, M ^c   Hofmann, S ^c,d   Galimberti, C ^a   Hoertnagel, K ^d   Lulli, L ^a   Freisinger, P ^c   Bindoff, L ^e   Gerbitz, K D ^c   Comi, G P ^b   Uziel, G ^a   Zeviani, M ^a,f   Meiringer, T ^d  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c Institut für Klinische Chemie   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^f Divisione di Biochimica e Genetica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; NUCLEAR PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 9Q; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FIBROBLAST; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LEIGH DISEASE; MITOCHONDRIAL RESPIRATION; PRIORITY JOURNAL; RESPIRATORY CHAIN;

CHILD, PRESCHOOL; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT COMPLEX IV; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUSCLES; MUTATION; PROTEINS; SYNDROME;

EID: 0032816291     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199908)46:2<161::AID-ANA4>3.0.CO;2-O     Document Type: Article

References (13)

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