Mutations in mitochondrially encoded complex i enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Journal of Human Genetics

Volumn 56, Issue 11, 2011, Pages 759-764

  Zhao, Danhua ^a   Hong, Daojun ^a   Zhang, Wei ^a   Yao, Sheng ^b   Qi, Xiaokun ^b   Lv, He ^a   Zheng, Riliang ^a   Feng, Liqun ^c   Huang, Yining ^a   Yuan, Yun ^a   Wang, Zhaoxia ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b NAVY GENERAL HOSPITAL   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

MELAS; mitochondrial DNA; mitochondrially encoded complex I; MTND; mutation

Indexed keywords

ANTICONVULSIVE AGENT; CORTICOSTEROID; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); THIAMAZOLE;

ADOLESCENT; ADULT; ARTICLE; CHINESE; COHORT ANALYSIS; CONTROLLED STUDY; CORTICOSTEROID THERAPY; DIVERGENT STRABISMUS; FEMALE; GAIT DISORDER; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HOMONYMOUS HEMIANOPIA; HUMAN; HUMAN TISSUE; HYPERTHYROIDISM; LEIGH DISEASE; MAJOR CLINICAL STUDY; MALE; MELAS SYNDROME; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENICITY; RETROBULBAR OPTIC NEUROPATHY; SEIZURE; TONIC CLONIC SEIZURE; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; COHORT STUDIES; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; INFANT; MALE; MELAS SYNDROME; MOLECULAR SEQUENCE DATA; MUSCLES; MUTATION; NADH DEHYDROGENASE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; YOUNG ADULT;

EID: 82255192922     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.96     Document Type: Article

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