Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

Human Mutation

Volumn 36, Issue 1, 2015, Pages 34-38

  Baertling, Fabian ^a,b   A M van den Brand, Mariel ^a   Hertecant, Jozef L ^c   Al Shamsi, Aisha ^c   P van den Heuvel, Lambert ^a   Distelmaier, Felix ^b   Mayatepek, Ertan ^b   Smeitink, Jan A ^a   Nijtmans, Leo G J ^a   Rodenburg, Richard J T ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c TAWAM HOSPITAL   (United Arab Emirates)

Author keywords

C1ORF31; Cardiomyopathy; COA6; Cytochrome c oxidase; OXPHOS

Indexed keywords

COPPER; CYTOCHROME C OXIDASE;

CARDIOMYOPATHY, HYPERTROPHIC; CYTOCHROME C OXIDASE DEFICIENCY; FEMALE; GENETICS; HEK293 CELL LINE; HUMAN; METABOLISM; MITOCHONDRION; NEWBORN; PATHOLOGY;

CARDIOMYOPATHY, HYPERTROPHIC; COPPER; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HEK293 CELLS; HUMANS; INFANT, NEWBORN; MITOCHONDRIA;

EID: 84920091012     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22715     Document Type: Article

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