SURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old

Journal of Child Neurology

Volumn 24, Issue 10, 2009, Pages 1296-1301

  Timothy, Jeremy ^a   Geller, Thomas ^a  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Diffusion weighted imaging; Leigh syndrome; Leukoencephalopathy; Mitochondrial disorder; SURF 1

Indexed keywords

CARBAMAZEPINE; CYTOCHROME C OXIDASE; GANGLIOSIDE GM1; GANGLIOSIDE GM2; LACTIC ACID; PYRUVIC ACID; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN; SURF 1 PROTEIN; SURF-1 PROTEIN;

ANAMNESIS; ARTICLE; ATAXIA; BRAIN EDEMA; CASE REPORT; CHILD; CHILD DEVELOPMENT; CLINICAL EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DIFFUSION WEIGHTED IMAGING; FOCAL EPILEPSY; GAIT DISORDER; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GRAY MATTER; HOMOZYGOSITY; HUMAN; LEIGH DISEASE; LEUKOENCEPHALOPATHY; MALE; MITOCHONDRIAL ENCEPHALOPATHY; MYOCLONUS; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC NERVE ATROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SACCADIC EYE MOVEMENT; SPASTICITY; TORTICOLLIS; WHITE MATTER; BLOOD; BRAIN; DISEASE COURSE; GENETICS; PATHOLOGY;

BRAIN; CHILD, PRESCHOOL; DIFFUSION MAGNETIC RESONANCE IMAGING; DISEASE PROGRESSION; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS;

EID: 74949138036     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809333543     Document Type: Article

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