Rapid progression of unilateral moyamoya disease in a patient with a family history and an RNF213 risk variant.

@article{Mineharu2013RapidPO,
  title={Rapid progression of unilateral moyamoya disease in a patient with a family history and an RNF213 risk variant.},
  author={Yohei Mineharu and Yasushi Takagi and Jun C. Takahashi and Hirokuni Hashikata and Wanyang Liu and Toshiaki Hitomi and Hatasu Kobayashi and Akio Koizumi and Susumu Miyamoto},
  journal={Cerebrovascular diseases},
  year={2013},
  volume={36 2},
  pages={155-7}
}
vealed two haplotypes carrying p.R4810K: allele A 2 , which is common among patients with MMD, and allele A 1 , which is rare among patients with MMD [6] . The patient inherited an A 1 allele for p.R4810K ( fig. 1 d). On the other hand, her elder and younger sisters inherited an A 2 allele from their mother for p.R4810K, and no arterial stenosis was identified in either the initial or annual follow-up MRI examinations. Ethical approval for this study was given by the Institutional Review Board… CONTINUE READING

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De Novo Development of Moyamoya Disease in an Adult Female with a Genetic Variant of the RNF-213 Gene: Case Report.

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