A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

American Journal of Human Genetics

Volumn 88, Issue 4, 2011, Pages 488-493

  Huigsloot, Merei ^a   Nijtmans, Leo G ^a   Szklarczyk, Radek ^b   Baars, Marieke J H ^c   Van Den Brand, Mariël A M ^a   Hendriksfranssen, Marthe G M ^a   Van Den Heuvel, Lambertus P ^a   Smeitink, Jan A M ^a   Huynen, Martijn A ^b   Rodenburg, Richard J T ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOOXYGENASE 1; CYTOCHROME C OXIDASE;

ARTICLE; CARDIOMYOPATHY; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; FATALITY; FIBROBLAST; HOMOZYGOSITY; HUMAN; HUMAN CELL; MUTATION; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN ASSEMBLY; VIRAL GENE DELIVERY SYSTEM;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CARDIOMYOPATHIES; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX IV; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; FATAL OUTCOME; FEMALE; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OPEN READING FRAMES; PEDIGREE; PROTEIN MULTIMERIZATION; SEQUENCE HOMOLOGY, AMINO ACID;

SACCHAROMYCES CEREVISIAE;

EID: 79953683175     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.03.002     Document Type: Article

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