Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

Annals of Neurology

Volumn 45, Issue 6, 1999, Pages 787-790

  Triepels, R H ^a   Van Den Heuvel, L P ^a   Loeffen, J L C M ^a   Buskens, C A F ^a   Smeets, R J P ^a   Rubio Gozalbo, M E ^a   Budde, S M S ^a   Mariman, E C ^a   Wijburg, F A ^b   Barth, P G ^b   Trijbels, J M F ^a   Smeitink, J A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CITRATE SYNTHASE; CYTOCHROME C OXIDASE; PYRUVATE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; GENE AMPLIFICATION; GENETIC ANALYSIS; HUMAN; LEIGH DISEASE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RESPIRATORY CHAIN;

HUMANS; INFANT; LEIGH DISEASE; MALE; MUTATION; NAD(P)H DEHYDROGENASE (QUINONE);

EID: 0033050180     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199906)45:6<787::AID-ANA13>3.0.CO;2-6     Document Type: Article

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