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Dokumenttyp:
journal article 
Autor(en):
Oláhová, Monika; Haack, Tobias B; Alston, Charlotte L; Houghton, Jessica Ac; He, Langping; Morris, Andrew Am; Brown, Garry K; McFarland, Robert; Chrzanowska-Lightowlers, Zofia Ma; Lightowlers, Robert N; Prokisch, Holger; Taylor, Robert W 
Titel:
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. 
Abstract:
Isolated mitochondrial complex IV (cytochrome c oxidase) deficiency is an important cause of mitochondrial disease in children and adults. It is genetically heterogeneous, given that both mtDNA-encoded and nuclear-encoded gene products contribute to structural components and assembly factors. Pathogenic variants within these proteins are associated with clinical variability ranging from isolated organ involvement to multisystem disease presentations. Defects in more than 10 complex IV assembly f...    »
 
Zeitschriftentitel:
Eur J Hum Genet 
Jahr:
2015 
Band / Volume:
23 
Heft / Issue:
Seitenangaben Beitrag:
935-9 
Sprache:
eng 
Print-ISSN:
1018-4813 
TUM Einrichtung:
Institut für Humangenetik