Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.
case_series · Level IV
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- Record sourced from PubMed, PMID 30794663.
- Also identified by DOI 10.1371/journal.pone.0212647 and PMC identifier 6386293.
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Abstract
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. 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. 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. Our pilot study suggests that mutations in CD59 are absent in adult-onset sporadic CIDP.
Medical subject headings
- CD59 Antigens
- Mutation
- Polyradiculoneuropathy, Chronic Inflammatory Demyelinating