A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

Neurology

Volumn 60, Issue 11, 2003, Pages 1857-1861

  Crimi, Marco ^a,d   Galbiati, Sara ^a   Moroni, Isabella ^b   Bordoni, Andreina ^a   Perini, Maria Paola ^a   Lamantea, Eleonora ^b   Sciacco, Monica ^a   Zeviani, Massimo ^b   Biunno, Ida ^c   Moggio, Maurizio ^a   Scarlato, Guglielmo ^a   Comi, Giacomo Pietro ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b National Neurological Institute   (Italy)

^c Ist Tecnologie Biomediche Avanzate   (Italy)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; PROTEIN; PROTEIN ND5; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; ATAXIA; BODY MOVEMENT; BRADYKINESIA; BRAIN DISEASE; BRAIN INJURY; CASE REPORT; CEREBROVASCULAR DISEASE; CHOREA; COGNITION; COGNITIVE DEFECT; DEGENERATIVE DISEASE; DEVELOPMENTAL STAGE; DISEASE ASSOCIATION; DISEASE COURSE; DYSARTHRIA; DYSKINESIA; ELECTROCARDIOGRAM; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; ENZYME SUBUNIT; EVOKED AUDITORY RESPONSE; EVOKED VISUAL RESPONSE; GAZE; GENE IDENTIFICATION; GENE MUTATION; GRAND MAL SEIZURE; HEART RIGHT BUNDLE BRANCH BLOCK; HEMIPARESIS; HETEROPLASMY; HUMAN; HUMAN TISSUE; HYPERKINESIA; IMAGE ANALYSIS; LACTIC ACIDOSIS; LANGUAGE; LEIGH DISEASE; LEIGH MELAS OVERLAP SYNDROME; MALE; MELAS SYNDROME; METABOLIC ENCEPHALOPATHY; MISSENSE MUTATION; MITOCHONDRION; MOTOR COORDINATION; MUSCLE BIOPSY; MYOCLONUS; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC DISK; PARENT; PRIORITY JOURNAL; PSYCHOMOTOR ACTIVITY; PTOSIS; PYRAMIDAL SIGN; SLEEP; STROKE; TREMOR; VISUAL ACUITY;

EID: 10744223599     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000066048.72780.69     Document Type: Article

References (10)

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