Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

Journal of Medical Genetics

Volumn 52, Issue 3, 2015, Pages 203-207

  Ostergaard, Elsebet ^a   Weraarpachai, Woranontee ^b,c   Ravn, Kirstine ^a   Born, Alfred Peter ^a   Jønson, Lars ^a   Duno, Morten ^a   Wibrand, Flemming ^a   Shoubridge, Eric A ^b   Vissing, John ^d  

^a University of Copenhagen   (Denmark)

^b MCGILL UNIVERSITY   (Canada)

^c Faculty of Medicine Chiang Mai University   (Thailand)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYTOCHROME C OXIDASE; HOLOENZYME; MEMBRANE PROTEIN; COX14 PROTEIN, HUMAN; CYCLOOXYGENASE 1; MITOCHONDRIAL PROTEIN; MITRAC12 PROTEIN, HUMAN; PTGS1 PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; ENZYME ACTIVE SITE; ENZYME SYNTHESIS; EXERCISE INTOLERANCE; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; NATIVE POLYACRYLAMIDE GEL ELECTROPHORESIS; NEUROPATHY; OBESITY; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SHORT STATURE; STEADY STATE; BIOSYNTHESIS; DWARFISM; EXERCISE; EXOME; FIBROBLAST; GENE EXPRESSION REGULATION; GENETICS; PATHOLOGY; PHYSIOLOGY; PRESCHOOL CHILD;

ADULT; CHILD, PRESCHOOL; CYCLOOXYGENASE 1; CYTOCHROME-C OXIDASE DEFICIENCY; DWARFISM; ELECTRON TRANSPORT COMPLEX IV; EXERCISE; EXOME; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; OBESITY;

EID: 84930667639     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102914     Document Type: Article

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