1.
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.