A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

Human Molecular Genetics

Volumn 22, Issue 4, 2013, Pages 656-667

  Szklarczyk, Radek ^a   Wanschers, Bas F J ^a   Nijtmans, Leo G ^b   Rodenburg, Richard J ^b   Zschocke, Johannes ^c   Dikow, Nicola ^d   Van den Brand, Mariël A M ^b   Hendriks Franssen, Marthe G M ^b   Gilissen, Christian ^b   Veltman, Joris A ^b   Nooteboom, Marco ^a   Koopman, Werner J H ^a   Willems, Peter H G M ^a   Smeitink, Jan A M ^b   Huynen, Martijn A ^a   Van den Heuvel, Lambertus P ^b,e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CITRATE SYNTHASE; CYTOCHROME C OXIDASE; LACTIC ACID; MESSENGER RNA; MITOCHONDRIAL DNA; PROTEIN; PROTEIN FAM36A; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID ANALYSIS; CHILD; CYTOCHROME C OXIDASE DEFICIENCY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ENZYME ACTIVITY; EXOME; FIBROBLAST; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SCHOOL CHILD; WILD TYPE;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; ATAXIA; BASE SEQUENCE; CELLS, CULTURED; CHILD; CONSANGUINITY; CYTOCHROME-C OXIDASE DEFICIENCY; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX IV; GENE EXPRESSION; HUMANS; ION CHANNELS; LACTIC ACID; MALE; MEMBRANE PROTEINS; MICE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; MUTATION, MISSENSE; PROTEIN MULTIMERIZATION; SACCHAROMYCES CEREVISIAE PROTEINS;

EID: 84873019109     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds473     Document Type: Article

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