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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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| Pubblicato in: | BMC Neurol |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2021
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8237416/ https://ncbi.nlm.nih.gov/pubmed/34182938 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-021-02274-w |
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