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BIBTEX RIS

Variant Creutzfeldt–Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129

2017; Massachusetts Medical Society; Volume: 376; Issue: 3 Linguagem: Inglês

10.1056/nejmc1610003

ISSN

1533-4406

Autores

Tzehow Mok, Zane Jaunmuktane, Susan Joiner, Tracy Campbell, Catherine Morgan, Benjamin R. Wakerley, Farhad Golestani, Peter Rudge, Simon Mead, Hans Rolf Jäger, Jonathan D. F. Wadsworth, Sebastian Brandner, John Collinge,

Tópico(s)

Prion Diseases and Protein Misfolding

Resumo

In this case study, variant Creutzfeldt–Jakob disease (CJD) is shown to occur in a young man with heterozygosity, rather than homozygosity, at codon 129 of the prion protein gene (PRNP).

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