Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Brain

Volumn 134, Issue 1, 2011, Pages 183-195

  Kemp, John P ^a   Smith, Paul M ^a   Pyle, Angela ^a,b   Neeve, Vivienne C M ^a,b   Tuppen, Helen A L ^a   Schara, Ulrike ^c   Talim, Beril ^d   Topaloglu, Haluk ^d   Holinski Feder, Elke ^b   Abicht, Angela ^b   Czermin, Birgit ^b   Lochmüller, Hanns ^e   McFarland, Robert ^a   Chinnery, Patrick F ^a,e   Chrzanowska Lightowlers, Zofia M A ^a   Lightowlers, Robert N ^a   Taylor, Robert W ^a   Horvath, Rita ^a,b,e  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b Medical Genetic Centre   (Germany)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

^d HACETTEPE UNIVERSITY   (Turkey)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

combined respiratory chain deficiency; early onset encephalomyopathy; mitochondrial translation

Indexed keywords

5 METHYLAMINOMETHYL 2 THIOURIDYLATE METHYLTRANSFERASE; ELONGATION FACTOR 1; ELONGATION FACTOR G; ELONGATION FACTOR TS; ELONGATION FACTOR TU; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CARDIOMYOPATHY; CHILD; CLINICAL FEATURE; COMBINED RESPIRATORY CHAIN DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENE; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; IN VITRO STUDY; IN VIVO STUDY; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MITOCHONDRIAL RESPIRATION; MRPS16 GENE; MUSCLE BIOPSY; MYOPATHY; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RNA TRANSLATION; SYMPTOM;

ADOLESCENT; ADULT; BLOTTING, WESTERN; CELL LINE; CELL NUCLEUS; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUTATION; PROTEIN BIOSYNTHESIS;

EID: 78650702096     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq320     Document Type: Article

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