Abstract
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, usually autosomal dominant myopathy. OPMD is caused by a small expansion of an alanine (Ala) tract at the N-terminus of the nuclear poly(A)-binding protein (PABPN1) and is clinically characterised by progressive ptosis, dysphagia and limb muscle weakness. The pathological hallmark is the accumulation of unique tubulofilamentous inclusions (INI) within the nuclei of skeletal muscle fibers. These inclusions contain PABPN1 and also sequester ubiquitin, proteasome subunits and heat shock proteins as well as poly(A) RNA.
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