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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Bibliografiska uppgifter
I publikationen:BMC Neurol
Huvudupphovsmän: Hassan, Ahamad, Campbell, Tracy, Darwent, Lee, Odd, Hans, Green, Alison, Collinge, John, Mead, Simon
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2021
Ämnen:
Case Report
Länkar: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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