A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation. [electronic resource]
- Neurology Dec 2002
- 1966-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0028-3878
10.1212/01.wnl.0000041666.76863.47 doi
Ataxia--genetics Basal Ganglia--pathology Erythrocytes--metabolism Eukaryotic Initiation Factor-2B--genetics Fatal Outcome Guanosine Triphosphate--blood Humans Indians, North American Infant Leukoencephalopathy, Progressive Multifocal--genetics Magnetic Resonance Imaging Male Mutation, Missense--genetics Oligodendroglia--pathology Pedigree Polymorphism, Genetic--genetics Thalamus--pathology