An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant.

Dotti, Maria Teresa

An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant. [electronic resource] - Journal of neurology Apr 2009 - 679-82 p. digital

Publication Type: Case Reports; Letter; Research Support, N.I.H., Extramural

1432-1459

10.1007/s00415-009-0147-4 doi


Alexander Disease--genetics
Brain--pathology
Cell Line, Tumor
DNA Mutational Analysis
Female
Glial Fibrillary Acidic Protein--genetics
Humans
Infant
Magnetic Resonance Imaging
Mutation, Missense
Protein Multimerization--genetics