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Rapid Progression of Unilateral Moyamoya Disease in a Patient with a Family History and an <b><i>RNF213</i></b> Risk Variant
Author(s) -
Yohei Mineharu,
Yasushi Takagi,
Jun Takahashi,
Hirokuni Hashikata,
Wanyang Liu,
Toshiaki Hitomi,
Hatasu Kobayashi,
Akio Koizumi,
Susumu Miyamoto
Publication year - 2013
Publication title -
cerebrovascular diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.221
H-Index - 104
eISSN - 1421-9786
pISSN - 1015-9770
DOI - 10.1159/000352065
Subject(s) - medicine , moyamoya disease , family history , disease , cardiology
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 and Ethics Committee of the Kyoto University School of Medicine, Kyoto University, Japan.

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