Creutzfeldt–Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature

Genetic Creutzfeldt–Jakob disease (gCJD) is a prion disease caused by mutations in the prion protein gene (PRNP). It has an autosomal dominant inheritance, so gCJD with homozygous mutations is extremely rare, and the influence of homozygous mutations on the gCJD phenotype is unknown. We describe the...

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Detalles Bibliográficos
Autores principales: Shan, Yuheng, Zhang, Jiatang, Cen, Yuying, Xu, Xiaojiao, Tan, Ruishu, Zhao, Jiahua, Yu, Shengyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8824217/
https://www.ncbi.nlm.nih.gov/pubmed/35130121
http://dx.doi.org/10.1080/19336896.2022.2031719

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