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  • Title: Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129.
    Author: Young K, Clark HB, Piccardo P, Dlouhy SR, Ghetti B.
    Journal: Brain Res Mol Brain Res; 1997 Feb; 44(1):147-50. PubMed ID: 9030710.
    Abstract:
    The most common mutation causing Gerstmann-Sträussler-Scheinker (GSS) disease is P102L in the prion protein. Previously, this mutation has only been found in coupling with methionine at residue 129. We describe a patient with GSS disease in whom the P102L mutation is in coupling with valine at residue 129. The clinical presentation in P102L-V129 differs greatly from that seen in P102-M129 patients.
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