Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

European Journal of Human Genetics

Volumn 19, Issue 3, 2011, Pages 275-279

  Smits, Paulien ^a   Antonicka, Hana ^b   Van Hasselt, Peter M ^c   Weraarpachai, Woranontee ^b   Haller, Wolfram ^d   Schreurs, Marieke ^a   Venselaar, Hanka ^e   Rodenburg, Richard J ^a   Smeitink, Jan A ^a   Van Den Heuvel, Lambert P ^a,f  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d EVANGELISCHES KRANKENHAUS   (Germany)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f Department of Pediatrics   (Belgium)

Author keywords

combined OXPHOS deficiency; EFG1 GFM1; mitochondrial translation

Indexed keywords

ARGININE; CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL ELONGATION FACTOR G1; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; TRYPTOPHAN; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; COMPLEX I DEFICIENCY; COMPLEX III DEFICIENCY; CYTOCHROME C OXIDASE DEFICIENCY; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GENE MUTATION; GESTATIONAL AGE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; METABOLIC DISORDER; MICROCEPHALY; MITOCHONDRIAL ENCEPHALOPATHY; MUSCLE HYPERTONIA; MUSCLE TISSUE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION DEFICIENCY; PREDICTION; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN DOMAIN; RIBOSOME; URINE LEVEL;

CELLS, CULTURED; CHILD, PRESCHOOL; EPILEPSY; FEMALE; FIBROBLASTS; HUMANS; INFANT; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; OXIDATIVE PHOSPHORYLATION; PEPTIDE ELONGATION FACTOR G; PROTEIN BIOSYNTHESIS; PROTEIN CONFORMATION;

EID: 79951812633     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.208     Document Type: Article

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