Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease

BACKGROUND: More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date. METHODS: We describe the clinical and neuropathological data of inherited early-onset prion disease caused...

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Detalles Bibliográficos
Autores principales: Ximelis, Teresa, Marín-Moreno, Alba, Espinosa, Juan Carlos, Eraña, Hasier, Charco, Jorge M., Hernández, Isabel, Riveira, Carmen, Alcolea, Daniel, González-Roca, Eva, Aldecoa, Iban, Molina-Porcel, Laura, Parchi, Piero, Rossi, Marcello, Castilla, Joaquín, Ruiz-García, Raquel, Gelpi, Ellen, Torres, Juan María, Sánchez-Valle, Raquel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8524886/
https://www.ncbi.nlm.nih.gov/pubmed/34663460
http://dx.doi.org/10.1186/s13195-021-00912-6

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