Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

American Journal of Human Genetics

Volumn 87, Issue 1, 2010, Pages 115-122

  Antonicka, Hana ^a   Østergaard, Elsebet ^b   Sasarman, Florin ^a   Weraarpachai, Woranontee ^a   Wibrand, Flemming ^b   Pedersen, Anne Marie B ^c   Rodenburg, Richard J ^d   Van Der Knaap, Marjo S ^e   Smeitink, Jan A M ^d   Chrzanowska Lightowlers, Zofia M ^f   Shoubridge, Eric A ^a  

^a MCGILL UNIVERSITY   (Canada)

^b Rigshospitalet   (Denmark)

^c GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MESSENGER RNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOSOME RNA; TRANSFER RNA; C12ORF65 PROTEIN, HUMAN; ELONGATION FACTOR; MULTIENZYME COMPLEX; TRANSLATION TERMINATION FACTOR;

ARTICLE; CASE REPORT; CHILD; DNA SEQUENCE; ENCEPHALOMYOPATHY; FEMALE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; LEIGH DISEASE; MALE; OPHTHALMOPLEGIA; OPTIC NERVE ATROPHY; PEDIGREE; PRIORITY JOURNAL; RIBOSOME; ADULT; CELL CULTURE; FIBROBLAST; GENETICS; METABOLISM; MITOCHONDRION; MUTATION; OXIDATIVE PHOSPHORYLATION; PRESCHOOL CHILD; PROTEIN SYNTHESIS;

BACTERIA (MICROORGANISMS);

CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; FEMALE; FIBROBLASTS; HUMANS; LEIGH DISEASE; MALE; MITOCHONDRIA; MUTATION; OPHTHALMOPLEGIA; OPTIC ATROPHY; OXIDATIVE PHOSPHORYLATION; PEDIGREE; PEPTIDE ELONGATION FACTORS; PEPTIDE TERMINATION FACTORS; PROTEIN BIOSYNTHESIS; RIBOSOMES; RNA, MESSENGER; RNA, RIBOSOMAL; RNA, TRANSFER; YOUNG ADULT;

EID: 77955082781     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.06.004     Document Type: Article

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