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., ...Daha Fazla

NEUROLOGY, cilt.76, sa.3, ss.227-235, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 76 Sayı: 3
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1212/wnl.0b013e318207b043
  • Dergi Adı: NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.227-235
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.