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

Tarih
2011
Yazar
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.
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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.
Bağlantı
http://hdl.handle.net/20.500.12627/123986
https://doi.org/10.1212/wnl.0b013e318207b043
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