Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies

Journal of Child Neurology

Volumn 24, Issue 7, 2009, Pages 828-832

  Lim, Byung Chan ^a   Park, Jun Dong ^a   Hwang, Hee ^a   Kim, Ki Joong ^a   Hwang, Yong Seung ^a   Chae, Jong Hee ^a   Cheon, Jung Eun ^a   Kim, In One ^a   Lee, Ran ^b   Moon, Han Ku ^c  

^a Seoul National University College of Medicine   (South Korea)

^b Konkuk University School of Medicine   (South Korea)

^c Yeungnam University College of Medicine   (South Korea)

Author keywords

Childhood mitochondrial encephalopathy; G13513A; Leigh syndrome; Respiratory chain; T10191C

Indexed keywords

ADENOSINE; ANTICONVULSIVE AGENT; CYTIDINE; GUANOSINE; LACTIC ACID; MITOCHONDRIAL DNA; MULTIVITAMIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE 3; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE 5; THYMIDINE; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; BRAIN DAMAGE; CASE REPORT; CHILD; CHILDHOOD DISEASE; DRUG MEGADOSE; DYSARTHRIA; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HAND TREMOR; HEARING LOSS; HEMIPLEGIA; HUMAN; HYPERREFLEXIA; LACTATE BLOOD LEVEL; LEIGH DISEASE; MALE; MELAS SYNDROME; MENTAL DETERIORATION; MITOCHONDRIAL ENCEPHALOPATHY; MOTOR DYSFUNCTION; MYOCLONUS SEIZURE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PTOSIS; SEIZURE; STROKE; TONIC CLONIC SEIZURE;

ACIDOSIS, LACTIC; BRAIN; BRAIN DISEASES, METABOLIC; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MELAS SYNDROME; MITOCHONDRIAL DISEASES; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA;

EID: 67949085199     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808331085     Document Type: Article

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