Impaired Complex I Assembly in a Leigh Syndrome Patient with a Novel Missense Mutation in the ND6 Gene

Annals of Neurology

Volumn 54, Issue 5, 2003, Pages 665-669

  Ugalde, Cristina ^a   Triepels, Ralf H ^a   Coenen, Marieke J H ^a   Van den Heuvel, Lambert P ^a   Smeets, Roel ^a   Uusimaa, Johanna ^b   Briones, Paz ^c   Campistol, Jaume ^d   Majamaa, Kari ^b   Smeitink, Jan A M ^a   Nijtmans, Leo G J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF OULU   (Finland)

^c CSIC   (Spain)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; ENZYME DEFICIENCY; FIBROBLAST; GENE; GENE MUTATION; HETEROPLASMY; HUMAN; INFANT; LEIGH DISEASE; MALE; MISSENSE MUTATION; MOLECULAR CLONING; ND6 GENE; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN STABILITY; STRUCTURAL GENE;

CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FIBROBLASTS; HUMANS; INFANT; LEIGH DISEASE; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION;

EID: 0242321724     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10734     Document Type: Article

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