Abstract
OPMD is a late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia [1–3], and unique tubulo-filamentous intranuclear inclusions [4]. The disease is caused by short (GCG)8–13 expansions in the polyadenylate-binding protein nuclear 1 gene (PABPN1, previously abbreviated PABP2) [5, 6], and mutant proteins have been shown to be the constituents of the nuclear inclusions [7], corresponding to aggregation of ubiquitin-tagged proteins, which cannot be degraded in the proteasomal machinery [8].
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Angelini, C. (2018). Oculopharyngeal Muscular Dystrophy. In: Genetic Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-56454-8_34
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DOI: https://doi.org/10.1007/978-3-319-56454-8_34
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