Mitochondrial respiratory chain complex I deficiency due to 10191T > C mutation in ND3 gene

Chinese Journal of Contemporary Pediatrics

Volumn 14, Issue 8, 2012, Pages 561-566

  Liu, Yu Peng ^a   Ma, Yan Yan ^a   Wu, Tong Fei ^a   Wang, Qiao ^a   Kong, Qing Peng ^a   Wei, Xiao Qiong ^a   Zhang, Yao ^a   Song, Jin Qing ^a   Chang, Xing Zhi ^a   Zhang, Yue Hua ^a   Xiao, Jiang Xi ^a   Yang, Yan Ling ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Child; Leigh syndrome; Mitochondrial respiratory chain complex I deficiency; ND3 gene

Indexed keywords

CITRATE SYNTHASE; GENOMIC DNA; LACTIC ACID; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX 1; PYRUVIC ACID; THYMINE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BASAL GANGLION; BLOOD; BRAIN DAMAGE; BRAIN RADIOGRAPHY; CASE REPORT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ASSAY; EPILEPSY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; LACTATE BLOOD LEVEL; LEG; LEIGH DISEASE; LEUKOCYTE; MALE; MITOCHONDRIAL GENE; MITOCHONDRIAL RESPIRATION; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX 1 DEFICIENCY; MOTOR DYSFUNCTION; ND3 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PROTEIN DEFICIENCY; PROTEIN FUNCTION; PTOSIS; REFERENCE VALUE; SPASTIC PARESIS; WEAKNESS;

ADOLESCENT; BRAIN; ELECTRON TRANSPORT COMPLEX I; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL DISEASES; MUTATION;

EID: 84865850812     PISSN: 10088830     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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