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  • Title: Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy.
    Author: Ramesh K, Sharma S, Kumar A, Salomons GS, van der Knaap MS, Gulati S.
    Journal: J Child Neurol; 2013 Mar; 28(3):396-8. PubMed ID: 22566711.
    Abstract:
    Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary acidic protein gene.
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