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Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

Articolo
Data di Pubblicazione:
2019
Abstract:
Objective Mutations in CD59 cause CIDP-like polyneuropathy in children with inherited chronic hemolysis. We hypothesized that mutations in CD59 might be found in a subset of sporadic CIDP patients. Methods 35 patients from two centers, fulfilling the EFNS/PNS diagnostic criteria for CIDP were included. CD59 coding region was amplified by PCR and Sanger sequenced. Results One rare variant was detected in a patient which resulted in a synonymous change and predicted to be neutral. Pathogenic variants were absent in our cohort. Interpretation Our pilot study suggests that mutations in CD59 are absent in adult-onset sporadic CIDP.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
CD59 Antigens; Female; Humans; Male; Middle Aged; Pilot Projects; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Mutation
Elenco autori:
Duchateau, L.; Martin-Aguilar, L.; Lleixa, C.; Cortese, A.; Dols-Icardo, O.; Cervera-Carles, L.; Pascual-Goni, E.; Diaz-Manera, J.; Calegari, I.; Franciotta, D.; Rojas-Garcia, R.; Illa, I.; Clarimon, J.; Querol, L.
Link alla scheda completa:
https://iris.unipv.it/handle/11571/1349917
Pubblicato in:
PLOS ONE
Journal
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URL

https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212647
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