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PLoS One ; 14(2): e0212647, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30794663

RESUMEN

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.


Asunto(s)
Antígenos CD59/genética , Mutación , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto
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