Intra-myonuclear inclusions are diagnostic of oculopharyngeal muscular dystrophy
Ogasawara, M.; Eura, N.; Iida, A.; Kumutpongpanich, T.; Minami, N.; Nonaka, I.; Hayashi, S.; Noguchi, S.; Nishino, I.
Show abstract
The pathologies of oculopharyngeal muscular dystrophy (OPMD) and oculopharyngodistal myopathy (OPDM) are indistinguishable. We found that p62-positive intra-nuclear inclusions (INIs) in myonuclei (myo-INIs) were significantly more frequent in OPMD (11.4 {+/-} 4.1%, range 5.0- 17.5%) than in OPDM and other rimmed vacuolar myopathies (RVMs) (1-2% on average, range 0.0-3.5%, p<0.0001). In contrast, INIs in nonmuscle cells (nonmuscle-INIs) were present in OPDM, but absent in other RVMs, including OPMD. These results indicate that OPMD can be differentiated from OPDM and other RVMs by the frequent presence of myo-INIs ([≥]5%) and the absence of nonmuscle-INIs in muscle pathology.
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