A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms

Mitochondrion

Volumn 13, Issue 6, 2013, Pages 656-661

  Wray, Carter D ^a,b   Friederich, Marisa W ^a   du Sart, Desiree ^c   Pantaleo, Sarah ^c   Smet, Joél ^d   Kucera, Cathlin ^a   Fenton, Laura ^e   Scharer, Gunter ^a,f   Van Coster, Rudy ^d   Van Hove, Johan L K ^a  

^a University of Colorado Denver and Children s Hospital Colorado   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^f MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Coenzyme Q binding; Electron transport chain complex 1; Infantile spasms; Leigh disease; ND1

Indexed keywords

ALANINE; ALPHA FETOPROTEIN; AMMONIA; BIOTINIDASE; CARNITINE; CREATINE KINASE; ETIRACETAM; KETONE; LACTIC ACID; MITOCHONDRIAL DNA; PYRUVATE DEHYDROGENASE; PYRUVIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); THYROID HORMONE; TOPIRAMATE; UBIQUINONE;

ABNORMAL POSTURE; ACHILLES REFLEX; AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; AMMONIA BLOOD LEVEL; ARTICLE; BABINSKI REFLEX; BASAL GANGLION; BINDING SITE; BRAIN SIZE; CASE REPORT; CAUDATE NUCLEUS; CEREBRAL PEDUNCLE; CHILD DEVELOPMENT; CITRIC ACID CYCLE; COMPLEX I DEFICIENCY; CONCENTRATION RESPONSE; CREATINE KINASE BLOOD LEVEL; DGUOK GENE; DISEASE ACTIVITY; DISEASE COURSE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; ENZYME SYNTHESIS; EPILEPTIC DISCHARGE; EXTUBATION; EYE MOVEMENT; FAILURE TO THRIVE; FOLLOW UP; GENE MUTATION; GENE STRUCTURE; GLOBUS PALLIDUS; HETEROPLASMY; HUMAN; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; IRRITABILITY; LACTATE BLOOD LEVEL; LEIGH DISEASE; LETHARGY; LIVER BIOPSY; MALE; MESENCEPHALON; MICROCEPHALY; MITOCHONDRIAL GENE; MORTALITY; MOSAICISM; MT ND1 GENE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE RIGIDITY; MUSCLE TWITCH; NEUROIMAGING; NEWBORN PERIOD; NUCLEAR MAGNETIC RESONANCE IMAGING; PDHA1 GENE; POLG1 GENE; PREGNANCY OUTCOME; PRENATAL SCREENING; PRIORITY JOURNAL; PUTAMEN; PYRUVATE BLOOD LEVEL; RED NUCLEUS; REFLEX DISORDER; SKIN BIOPSY; STRIDOR; SURF1 GENE; TEMPORAL LOBE; THALAMUS; TREATMENT RESPONSE; TREATMENT WITHDRAWAL; WHITE MATTER;

COENZYME Q BINDING; EEG; ELECTROENCEPHALOGRAM; ELECTRON TRANSPORT CHAIN COMPLEX 1; HIGH RESOLUTION MELT; HRM; INFANTILE SPASMS; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; LHON; MELAS; MITOCHONDRIAL DNA; MITOCHONDRIAL ENCEPHALOMYOPATHY WITH LACTIC ACIDOSIS AND STROKE LIKE EPISODES; MTDNA; ND1; PAGE; PCR; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION;

DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PEDIGREE; SPASM;

EID: 84885050042     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2013.09.004     Document Type: Article

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