Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases

Folia Neuropathologica

Volumn 44, Issue 2, 2006, Pages 144-148

  Mierzewska, Hanna ^a   van der Knaap, Marjo S ^b   Scheper, Gert C ^b   Jurkiewicz, Elzbieta ^a   Schmidt Sidor, Bogna ^c   Szymańska, Krystyna ^d  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^d INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

CACH; Eukaryotic translation initiation factor 2B elF2B; Orthochromatic leukodystrophy; Vanishing white matter leukoencephalopathy

Indexed keywords

ADENINE; GUANINE; INITIATION FACTOR; INITIATION FACTOR 2B2; MYELIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL COUNT; CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYTEM HYPOMYELINATION; CLINICAL FEATURE; CYTOPLASM; DISEASE COURSE; DISEASE SEVERITY; DYSARTHRIA; FEMALE; GAIT DISORDER; HAND TREMOR; HEMISPHERE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTELLIGENCE; LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODENDROGLIA; ONSET AGE; PHENOTYPE; POINT MUTATION; POLAND; SCHOOL CHILD; SPASTICITY; WHITE MATTER;

EID: 33746152896     PISSN: 16414640     EISSN: 1509572X     Source Type: Journal    
DOI: None     Document Type: Article

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