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Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T→C mutation

✍ Scribed by Maria T. Rantamäki; Heidi K. Soini; Saara M. Finnilä; Kari Majamaa; Bjarne Udd

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
86 KB
Volume
58
Category
Article
ISSN
0364-5134

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## Abstract We report on a pedigree of dominantly‐inherited, adult‐onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. This pedigree highlights the importance of genetic analysis of the GFAP gene in leukodystrophy with palatal tremor. © 2004 Movement D