Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

Annals of Neurology

Volumn 63, Issue 3, 2008, Pages 405-408

  Berger, Itai ^a   Hershkovitz, Eli ^b   Shaag, Avraham ^a   Edvardson, Simon ^a   Saada, Ann ^a   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

NDUFA11 PROTEIN; PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ARTICLE; BRAIN DISEASE; CARDIOMYOPATHY; CLINICAL ARTICLE; ENZYME DEFICIENCY; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LACTIC ACIDEMIA; MITOCHONDRIAL COMPLEX I DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; ELECTRON TRANSPORT COMPLEX I; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; MALE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUTATION; NAD(P)H DEHYDROGENASE (QUINONE); PEDIGREE; PROTEIN SUBUNITS;

EID: 41849090449     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.21332     Document Type: Article

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