Article
Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.
American journal of human genetics - 1 Jun 1996
Takano H, Onodera O, Takahashi H, Igarashi S, Yamada M, Oyake M, Ikeuchi T, Koide R, Tanaka H, Iwabuchi K, Tsuji S
Abstract excerpt
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease caused by unstable expansion of a CAG repeat in the DRPLA gene. We performed detailed quantitative analysis of the size and the size distribution (range) of the expanded CAG repeats in various regions of the CNS of eight autopsied patients with DRPLA. Expanded alleles (AE) showed considerable variations in size, as...
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