https://pubmed.ncbi.nlm.nih.gov/35246666/
A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes
Alexander disease (AxD) is a neurodegenerative astrogliopathy caused by mutation in the glial fibrillary acidic protein (GFAP) gene. A 42-year-old Korean man...