Article

Homozygous R136S mutation in PRNP gene causes recessive inherited early onset prion disease

2021-05-06

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date. <bold>Methods: </bold>We describe the clinical and neuropathological data of inherited early-onset prion disease caused by the rare PRNP homozygous mutation R136S. In vitro PrP Sc pro...

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Literature Corpus work: 3e1b1439-f1a9-5256-897e-278f4fdd1010
DOI: 10.21203/rs.3.rs-483825/v1

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