Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

Biochemical and Biophysical Research Communications

Volumn 275, Issue 1, 2000, Pages 63-68

  Budde, S M S ^a   Van Den Heuvel, L P W J ^a   Janssen, A J ^a   Smeets, R J P ^a   Buskens, C A F ^a   DeMeirleir, L ^b   Van Coster, R ^c   Baethmann, M ^d   Voit, T ^d   Trijbels, J M F ^a   Smeitink, J A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

Leigh syndrome; Mitochondria; NADH: Ubiquinone oxidoreductase; NDUFS4; OXPHOS system

Indexed keywords

COMPLEMENTARY DNA; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; THYMIDINE PHOSPHORYLASE; UBIQUINOL CYTOCHROME C REDUCTASE;

ARTICLE; CASE REPORT; CHILD; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INBORN ERROR OF METABOLISM; LEIGH DISEASE; MALE; MUSCLE BIOPSY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

MAMMALIA;

EID: 0034682974     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.2000.3257     Document Type: Article

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