Article
Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.
Journal of human genetics - 1 Dec 2012
Miyatake Satoko, Touho Hajime, Miyake Noriko, Ohba Chihiro, Doi Hiroshi, Saitsu Hirotomo, Taguri Masataka, Morita Satoshi, Matsumoto Naomichi
Abstract excerpt
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive occlusion of the terminal portion of the internal carotid arteries and their branches. A genetic background was under speculation, because of the high incidence of familial occurrence. Sibling cases usually exhibit a similar clinical course. Recently, RNF213 was identified as the first MMD susceptibility gene. The c.14576G>A...
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