Article
Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2015
Ben-Zeev Bruria, Tabib Adi, Nissenkorn Andreea, Garti Ben-Zion, Gomori John Moshe, Nass Dvora, Goldshmidt Hanoch, Fellig Yakov, Anikster Yair, Nevo Yoram, Elpeleg Orly, Mevorach Dror
Abstract excerpt
Identification of CD59 p.Cys89Tyr mutation in 5 patients from North-African Jewish origin presenting with chronic inflammatory demyelinating polyradiculoneuropathy like disease and chronic hemolysis, led us to reinvestigate an unsolved disease in 2 siblings from the same origin who died 17 years ago. The two patients carried the same CD59 gene mutation previously described by our group. These children had quiet...
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