A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation. [electronic resource]
Producer: 20030114Description: 1966-8 p. digitalISSN:- 0028-3878
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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