Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients

Date
2011
Author
Kiyan, Esen
Solakoglu, S.
Deymeer, F.
Serdaroglu-Oflazer, P.
Parman, Y.
Durmuş, Hacer
LAVAL, S. H.
GOKYIGITI, M.
Ertekin, C.
ERCAN, I.
KARCAGI, V.
STRAUB, V.
BUSHBY, K.
LOCHMUELLER, H.
Metadata
Show full item record
Abstract
Background: Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease with putative autosomal dominant and autosomal recessive inheritance. Patients with OPDM present with progressive ocular, pharyngeal, and distal limb muscle involvement. The genetic defect causing OPDM has not been elucidated.
URI
http://hdl.handle.net/20.500.12627/123986
https://doi.org/10.1212/wnl.0b013e318207b043
Collections