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Familial thalamic dementia and fatal familial insomnia are prion diseases with the same mutation

✍ Scribed by McCollum, J.

Book ID: 122375003
Publisher: Elsevier Science
Year: 1992
Tongue: English
Weight: 156 KB
Volume: 13
Category: Article
ISSN: 0197-4580
DOI: 10.1016/0197-4580(92)90496-K

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## Abstract Mutations in the valosin‐containing protein (__VCP__) are known to cause autosomal‐dominant inclusion‐body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N‐terminal region of the __VCP__ gene in a German fam