Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of leigh syndrome

Journal of Medical Genetics

Volumn 48, Issue 11, 2011, Pages 737-740

  Ostergaard, Elsebet ^a   Rodenburg, Richard J ^b   van den Brand, Mariël ^b   Thomsen, Lise Lykke ^a   Duno, Morten ^a   Batbayli, Mustafa ^a   Wibrand, Flemming ^a   Nijtmans, Leo ^b  

^a Rigshospitalet   (Denmark)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BASAL GANGLION; CASE REPORT; CHILD; COMPLEX I DEFICIENCY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; ENZYME STABILITY; FEMALE; FIBROBLAST; GENE; GENE MUTATION; HUMAN; HUMAN CELL; LEIGH DISEASE; MOTOR DYSFUNCTION; NDUFA12 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ASSEMBLY; SCHOOL CHILD;

BLOTTING, WESTERN; CHILD; CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX I; FEMALE; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; LEIGH DISEASE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUSCLES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS;

EID: 81055158015     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2011.088856     Document Type: Article

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