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

Durmuş, Hacer; LAVAL, S.; Deymeer, F.; Parman, FATMA; Kiyan, ESEN; GOKYIGITI, M.; Ertekin, C.; ERCAN, I.; Solakoglu, Seyhun; KARCAGI, V.; STRAUB, V.; BUSHBY, K.; LOCHMUELLER, H.; Serdaroglu-Oflazer, P.

doi:10.1212/wnl.0b013e318207b043

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

Durmuş H., LAVAL S. H., Deymeer F., Parman Y., Kiyan E., GOKYIGITI M., ...More

NEUROLOGY, vol.76, no.3, pp.227-235, 2011 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 76 Issue: 3
Publication Date: 2011
Doi Number: 10.1212/wnl.0b013e318207b043
Journal Name: NEUROLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.227-235
Istanbul University Affiliated: Yes

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.