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Intrafamilial clinical phenotypic heterogeneity with progranulin gene p.Glu498fs mutation

✍ Scribed by A.J. Larner


Book ID
119304404
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
120 KB
Volume
316
Category
Article
ISSN
0022-510X

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## Abstract __Progranulin__ gene (__PGRN__) mutations cause frontotemporal lobar degeneration with ubiquitin‐positive inclusions (FTLD‐U). Patients usually present with a frontotemporal dementia syndrome and have prominent atrophy and neuronal loss in frontal and temporal cortices and the striatum,