Phenotypic Heterogeneity of Variably Protease-Sensitive Prionopathy: A Report of Three Cases Carrying Different Genotypes at <i>PRNP</i> Codon 129

Phenotypic Heterogeneity of Variably Protease-Sensitive Prionopathy: A Report of Three Cases Carrying Different Genotypes at <i>PRNP</i> Codon 129

Variably protease-sensitive prionopathy is an exceedingly rare, likely underestimated, sporadic prion disease that is characterized by heterogeneous and often non-specific clinical and pathological features posing diagnostic challenges. We report the results of a comprehensive analysis of three embl...

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Bibliographic Details
Main Authors: Simone Baiardi, Angela Mammana, Marcello Rossi, Anna Ladogana, Benedetta Carlà, Pierluigi Gambetti, Sabina Capellari, Piero Parchi
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Viruses
Subjects:
VPSPr
prion disease
<i>PRNP</i>
protein misfolding
scrapie
amyloid
Online Access:https://www.mdpi.com/1999-4915/14/2/367

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https://www.mdpi.com/1999-4915/14/2/367

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