Heterozygous Cysteine-sparing NOTCH3 Variant p.Val237Met in a Japanese Patient with Suspected Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

A 64-year-old Japanese man with recurrent cerebral ischemic events and cognitive impairment was suspected of having cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) because of a family history and brain magnetic resonance imaging findings of cerebr...

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Detalles Bibliográficos
Autores principales: Kano, Yuya, Mizuta, Ikuko, Ueda, Akihiko, Nozaki, Hiroaki, Sakurai, Keita, Onodera, Osamu, Ando, Yukio, Yamada, Kentaro, Yuasa, Hiroyuki, Mizuno, Toshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8381162/
https://www.ncbi.nlm.nih.gov/pubmed/33678736
http://dx.doi.org/10.2169/internalmedicine.6096-20

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