Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.
Hinttala
Reetta
R
Karttunen
Vesa
V
Karttunen
Ari
A
Herva
Riitta
R
Uusimaa
Johanna
J
Remes
Anne M
AM
D000328:Adult; D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D019943:Amino Acid Substitution / Q000235:genetics; D001253:Astrocytes / Q000378:metabolism / Q000473:pathology*; D001284:Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001344:Autopsy; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D018450:Disease Progression; D017809:Fatal Outcome; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology*; D009778:Occipital Lobe / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D010641:Phenotype; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology