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Prion disease: A newly identified mutation in prion protein is associated with diarrhoea and autonomic neuropathy

✍ Scribed by Bible, Ellen


Book ID
124161339
Publisher
Nature Publishing Group
Year
2013
Tongue
English
Weight
531 KB
Volume
10
Category
Article
ISSN
1759-4758

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## Abstract We report two Creutzfeldt‐Jakob disease (CJD) patients with rhythmic pupillary and palpebral oscillation who had a mutation of prion protein codon 200 that resulted in the substitution of lysine for glutamate (Glu/Lys). Alternating dilation and constriction of the pupils combined with e