A novel PRNP-G131R variant associated with familial prion disease
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DOI: 10.1212/nxg.0000000000000454
Abstract: Roughly 40 autosomal dominant mutations of the prion protein gene (PRNP) cosegregate with familial Creutzfeldt-Jakob disease (CJD), fatal familial insomnia, or Gerstmann-Sträussler-Scheinker disease (GSS).1,2 Genetic prion disease in African Americans is rarely reported. We sequenced… read more here.
Keywords: prion; prion disease; novel prnp; g131r variant ... See more keywords