Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt–Jakob disease

Background: A novel prion variant, PRNP p.Tyr225Cys (c.674A>G; p.Y225C), was identified in an atypical Creutzfeldt–Jakob disease (CJD) patient. The patient had a 5-year history of progressive cognitive impairment with speech and gait disturbances. From the basic neurological examination at his fi...

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Detalles Bibliográficos
Autores principales: Bagyinszky, Eva, Yang, YoungSoon, Giau, Vo Van, Youn, Young Chul, An, Seong Soo A, Kim, SangYun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2019
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683949/
https://www.ncbi.nlm.nih.gov/pubmed/31447551
http://dx.doi.org/10.2147/CIA.S210909

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683949/
https://www.ncbi.nlm.nih.gov/pubmed/31447551
http://dx.doi.org/10.2147/CIA.S210909

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