A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy

Neurogenetics

Volumn 15, Issue 3, 2014, Pages 161-164

  Kashani, Alireza ^a   Thiffault, Isabelle ^a,b   Dilenge, Marie Emmanuelle ^a   Saint Martin, Christine ^a   Guerrero, Kether ^a   Tran, Luan T ^a   Shoubridge, Eric ^c   Van Der Knaap, Marjo S ^d   Braverman, Nancy ^a,e   Bernard, Geneviève ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e MCGILL UNIVERSITY   (Canada)

Author keywords

Complex I deficiency; Leukodystrophy; NDUFS1; Progressive cavitating encephalopathy

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); NDUFS1 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPLEX I DEFICIENCY; CORPUS CALLOSUM; DETERIORATION; DISEASE COURSE; ENZYME ACTIVITY; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; LEUKOENCEPHALOPATHY; MALE; MILD CAVITATING LEUKOENCEPHALOPATHY; MUTATIONAL ANALYSIS; NDUFS1 GENE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; REMISSION; SCHOOL CHILD; SEQUENCE ANALYSIS; BRAIN; DEFICIENCY; GENETICS; HOMOZYGOTE; LEUKOENCEPHALOPATHIES; MISSENSE MUTATION; MITOCHONDRIAL DISEASES; PATHOLOGY;

BRAIN; CHILD; ELECTRON TRANSPORT COMPLEX I; HOMOZYGOTE; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; NADH DEHYDROGENASE;

EID: 84904546786     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-014-0412-2     Document Type: Article

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