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) identifier identifier identifier

  • 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.