Functional consequences of mitochondrial tRNATrp and tRNA Arg mutations causing combined OXPHOS defects

European Journal of Human Genetics

Volumn 18, Issue 3, 2010, Pages 324-329

  Smits, Paulien ^a   Mattijssen, Sandy ^b   Morava, Eva ^a   Van Den Brand, Mariël ^a   Van Den Brandt, Frans ^a   Wijburg, Frits ^c   Pruijn, Ger ^b   Smeitink, Jan ^a   Nijtmans, Leo ^a   Rodenburg, Richard ^a   Van Den Heuvel, Lambert ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Combined OXPHOS defects; Mitochondrial DNA; Molecular mechanism; TRNAArg; TRNATrp

Indexed keywords

ARGININE TRANSFER RNA; CYTOCHROME C OXIDASE; MITOCHONDRIAL RNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); TRYPTOPHAN TRANSFER RNA; UBIQUINOL CYTOCHROME C REDUCTASE;

ANEMIA; ARTICLE; CASE REPORT; CHILD; CHILD DEATH; COMA; COMPLEX I DEFICIENCY; COMPLEX III DEFICIENCY; CONSTIPATION; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; FAILURE TO THRIVE; FEMALE; FIBROBLAST; GENE MUTATION; GRAND MAL SEIZURE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYBRID CELL; INFANT; MALE; METABOLIC ACIDOSIS; MICROCEPHALY; MITOCHONDRIAL GENETICS; MUSCLE BIOPSY; MUSCLE HYPOTONIA; OXIDATIVE PHOSPHORYLATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY FAILURE; RNA CONFORMATION; SOMNOLENCE; STEADY STATE;

BASE SEQUENCE; BLOTTING, NORTHERN; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FATAL OUTCOME; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; NUCLEIC ACID CONFORMATION; PREGNANCY; PROTEIN BIOSYNTHESIS; RNA, TRANSFER, AMINO ACYL;

EID: 77149156619     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.169     Document Type: Article

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