Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.
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ABSTRACT:
SUBMITTER: Duchateau L
PROVIDER: S-EPMC6386293 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.
Duchateau Lena L Martín-Aguilar Lorena L Lleixà Cinta C Cortese Andrea A Dols-Icardo Oriol O Cervera-Carles Laura L Pascual-Goñi Elba E Diaz-Manera Jordi J Calegari Ilaria I Franciotta Diego D Rojas-Garcia Ricard R Illa Isabel I Clarimon Jordi J Querol Luis L
PloS one 20190222 2
<h4>Objective</h4>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.<h4>Methods</h4>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.<h4>Results</h4>One rare variant was detected in a patient which resulted in a synonymous change and predicted to be neu ...[more]
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