Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene

Mitochondrial DNA

Volumn 27, Issue 2, 2016, Pages 1034-1037

  Wu, Liwen ^a   Peng, Jing ^a   Ma, Yuping ^a   He, Fang ^a   Deng, Xiaolu ^a   Wang, Guoli ^a   Lifen, Yang ^a   Yin, Fei ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Leukodystrophy; Mitochondrial complex I; Mutation; NDUFAF1

Indexed keywords

CREATINE KINASE; LACTIC ACID; NDUFAF1 PROTEIN; PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG; MITOCHONDRIAL PROTEIN; NDUFAF1 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ANOREXIA; ARTICLE; AUXILIARY EXAMINATION; CASE REPORT; CLINICAL FEATURE; COMPLEX I DEFICIENCY; CRACKLE; CRYING; DEMYELINATING NEUROPATHY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HYPERREFLEXIA; INFANT; IRRITABILITY; LEIGH DISEASE; LEUKOCYTE; LEUKODYSTROPHY; LUNG INFECTION; LYMPHOCYTE; MENTAL DEFICIENCY; MITOCHONDRIAL ENCEPHALOMYOPATHY; MITOCHONDRIAL ENCEPHALOPATHY; MITOCHONDRIAL GENE; MOTOR RETARDATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PHYSICAL EXAMINATION; PNEUMONIA; PRIORITY JOURNAL; RESPIRATORY CHAIN; SENSORIMOTOR NEUROPATHY; TACHYCARDIA; THORAX RADIOGRAPHY; VISUAL EVOKED POTENTIAL; WEAKNESS; WHITE MATTER LESION; BRAIN DISEASES, METABOLIC, INBORN; DEFICIENCY; ENZYMOLOGY; GENETICS; HETEROZYGOTE; MALE; PATHOLOGY; POINT MUTATION;

BRAIN DISEASES, METABOLIC, INBORN; EXONS; HETEROZYGOTE; HUMANS; INFANT; MALE; MITOCHONDRIAL PROTEINS; NADH DEHYDROGENASE; POINT MUTATION;

EID: 84982802748     PISSN: 19401736     EISSN: 19401744     Source Type: Journal    
DOI: 10.3109/19401736.2014.926543     Document Type: Article

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