TY  - GEN
AU  - Fogli,A
AU  - Dionisi-Vici,C
AU  - Deodato,F
AU  - Bartuli,A
AU  - Boespflug-Tanguy,O
AU  - Bertini,E
TI  - A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation
SN  - 0028-3878
PY  - 2003///0114
KW  - Ataxia
KW  - genetics
KW  - Basal Ganglia
KW  - pathology
KW  - Erythrocytes
KW  - metabolism
KW  - Eukaryotic Initiation Factor-2B
KW  - Fatal Outcome
KW  - Guanosine Triphosphate
KW  - blood
KW  - Humans
KW  - Indians, North American
KW  - Infant
KW  - Leukoencephalopathy, Progressive Multifocal
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation, Missense
KW  - Oligodendroglia
KW  - Pedigree
KW  - Polymorphism, Genetic
KW  - Thalamus
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/01.wnl.0000041666.76863.47
ER  -