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- W2000994598 abstract "A 23-year-old man with Pelizaeus-Merzbacher disease had a novel mutation, C344A (Thr115Lys), in exon 3 of the proteolipid protein gene (PLP) His mother, heterozygous for the mutation, developed progressive personality change and a gait disorder in her mid-20s. Her MRI at age 53 showed a diffuse severe leukodystrophy. This report extends the phenotypic range of disease due to PLP gene mutations to include adult-onset dementia in females." @default.
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- W2000994598 date "1996-11-01" @default.
- W2000994598 modified "2023-09-26" @default.
- W2000994598 title "Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease" @default.
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- W2000994598 doi "https://doi.org/10.1212/wnl.47.5.1333" @default.
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