Article
Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration.
Acta neuropathologica - 1 Feb 2014
Kouri Naomi, Carlomagno Yari, Baker Matthew, Liesinger Amanda M, Caselli Richard J, Wszolek Zbigniew K, Petrucelli Leonard, Boeve Bradley F, Parisi Joseph E, Josephs Keith A, Uitti Ryan J, Ross Owen A, Graff-Radford Neill R, DeTure Michael A, Dickson Dennis W, Rademakers Rosa
Abstract excerpt
In order to determine the frequency of microtubule-associated protein tau gene (MAPT) mutations and rare variants in CBD, we performed a systematic sequence analysis of MAPT coding and 3′ untranslated region (3′UTR) in a large cohort of autopsy-confirmed CBD patients (N = 109). This identified a novel MAPT mutation in exon 13, p.N410H, in a case that is neuropathologically indistinguishable from sporadic CBD. On...
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