Meeting reportMorphological changes in muscle fibers in oculopharyngeal muscular dystrophy
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Cited by (105)
Muscular Dystrophy, Oculopharyngeal
2014, Encyclopedia of the Neurological SciencesOculopharyngeal muscular dystrophy - An under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature
2012, Journal of the Formosan Medical AssociationCitation Excerpt :OPMD is a late onset disorder of muscle; it is associated with progressive eyelid ptosis, dysarthria, dysphagia and proximal weakness.1,2 The cardinal pathologic findings of OPMD are the presence of distinctive muscle fibers containing rimmed-vacuoles under a light microscope (LM) and of unique myocyte nuclei containing tubulofilamentous-inclusion under an electron microscope (EM).3 This disorder can be transmitted as both autosomal dominant and recessive trait; mutations in the polyadenylate-binding protein nuclear 1 (PABPN1) gene have been incriminated.4,5
Polyalanine-independent conformational conversion of nuclear poly(A)-binding protein 1 (PABPN1)
2012, Journal of Biological ChemistryCitation Excerpt :The disease is characterized by a proximal limb weakness, eyelid drooping (ptosis), and severe swallowing difficulties (dysphagia) (18). OPMD biopsy material from muscle fibers shows elongated intranuclear inclusions that consist predominantly of PABPN1 (19, 20). Currently, the role of the additional alanines on the aggregation behavior of PABPN1 is controversially discussed.
Oculopharyngeal Muscular Dystrophy
2023, Current Clinical NeurologyIntranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
2022, Acta Neuropathologica Communications