Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

New England Journal of Medicine

Volumn 351, Issue 20, 2004, Pages 2080-2086

  Coenen, Marieke J H ^a   Antonicka, Hana ^b   Ugalde, Cristina ^a   Sasarman, Florin ^b   Rossi, Rainer ^c   Heister, J G A M Angelien ^a   Newbold, Robert F ^d   Trijbels, Frans J M F ^a   Van Den Heuvel, Lambert P ^a   Shoubridge, Eric A ^b   Smeitink, Jan A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MCGILL UNIVERSITY   (Canada)

^c VIVANTES KLINIKUM NEUKÖLLN   (Germany)

^d BRUNEL UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ELONGATION FACTOR G; ELONGATION FACTOR G1; GUANINE NUCLEOTIDE BINDING PROTEIN; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHROMOSOME 3Q; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MAPPING; GENE MUTATION; HEPATIC ENCEPHALOPATHY; HUMAN; HUMAN CELL; MALE; MICROSATELLITE MARKER; MITOCHONDRION; NEWBORN; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

CHROMOSOMES, HUMAN, PAIR 3; DNA, COMPLEMENTARY; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; FEMALE; FIBROBLASTS; GUANOSINE TRIPHOSPHATE; HUMANS; INFANT; INFANT, NEWBORN; LIVER FAILURE; MALE; MICROCEPHALY; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUTATION; PEPTIDE ELONGATION FACTOR G; PROTEIN BIOSYNTHESIS; SEQUENCE ANALYSIS, DNA;

EID: 8344259033     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMoa041878     Document Type: Article

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