Role of RNF213 polymorphism in defining quasi-moyamoya disease and definitive moyamoya disease

CONCLUSIONS: There are two forms of QMMD, one in which the vascular abnormality is associated with an underlying disease, and the other in which MMD is coincidentally complicated by an unrelated underlying disease. It has been suggested that the presence or absence of the RNF213 c.14576G>A mutation may be useful in distinguishing between these disease types.PMID:34469872 | DOI:10.3171/2021.5.FOCUS21182

Source: Neurosurgical Focus - September 1, 2021 Category: Neurosurgery Authors: Eitaro Ishisaka Atsushi Watanabe Yasuo Murai Kazutaka Shirokane Fumihiro Matano Atsushi Tsukiyama Eiichi Baba Shunsuke Nakagawa Tomonori Tamaki Takayuki Mizunari Rokuya Tanikawa Akio Morita Source Type: research