Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

• Published in: Acta neuropathologica communications Vol. 10; no. 1; p. 176
• Main Authors: Ogasawara, Masashi, Eura, Nobuyuki, Iida, Aritoshi, Kumutpongpanich, Theerawat, Minami, Narihiro, Nonaka, Ikuya, Hayashi, Shinichiro, Noguchi, Satoru, Nishino, Ichizo
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 07.12.2022; BioMed Central; BMC
• Subjects: Biopsy; Biotechnology; Blood vessels; CGG repeat expansion; Comparative analysis; Computer industry; Disease; GIPC1; Histopathology; Humans; Immunohistochemistry; Intranuclear Inclusion Bodies; LRP12; Muscular dystrophy; Muscular Dystrophy, Oculopharyngeal - diagnosis; Mutation; NOTCH2NLC; Oculopharyngeal muscular dystrophy; Oculopharyngodistal myopathy; Pathology; Proteins; Statistical analysis; United States; United States > US; Japan; Oculopharyngodistal myopathy; GIPC1; Oculopharyngeal muscular dystrophy; Intranuclear inclusion; CGG repeat expansion; LRP12; NOTCH2NLC

Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistinguishable in terms of their myopathological features. To address the diagnostic gap, we evaluated the muscle biopsy samples for p62 expression by immunohistochemistry and com...