Fogli, A

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