Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease

BACKGROUND: Inherited prion diseases are rare autosomal dominant disorders associated with diverse clinical presentations. All are associated with mutation of the gene that encodes prion protein (PRNP). Homozygous mutations with atypical clinical phenotypes have been described but are extremely rare...

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Detalles Bibliográficos
Autores principales: Hassan, Ahamad, Campbell, Tracy, Darwent, Lee, Odd, Hans, Green, Alison, Collinge, John, Mead, Simon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8237416/
https://www.ncbi.nlm.nih.gov/pubmed/34182938
http://dx.doi.org/10.1186/s12883-021-02274-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8237416/
https://www.ncbi.nlm.nih.gov/pubmed/34182938
http://dx.doi.org/10.1186/s12883-021-02274-w

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