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The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP
A case of Creutzfeldt-Jakob disease (CJD) with a rare mutation of the prion protein (PrP) gene (PRNP) at codon 208 (R208H), while the codon 129 was a methionine homozygous genotype is reported. The patient initial displayed hand tremor, dizziness and progressive cognitive dysfunction. Subsequently,...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Landes Bioscience
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3226051/ https://ncbi.nlm.nih.gov/pubmed/21791975 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/pri.5.3.16796 |
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