Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12

Table 2 Intranuclear inclusions in diseases associated with noncoding CGG repeat expansions

	NIID1 [4, 5] NBPF19	OPML1 [2] LOC642361/ NUTM2B-AS1	OPDM1 Present study LRP12
Skeletal muscles
HE/ubiquitin	Undetectable	n.a.	Undetectable
Electron-microscopy	n.a.	n.a.	Tubulofilamentous
Extra-skeletal muscle organs
HE/ubiquitin	Widespread	n.a.	Widespread
Electron-microscopy	Fine filamentous	n.a.	Fine filamentous

OPDM oculopharyngodistal myopathy, OPML oculopharyngeal myopathy with leukoencephalopathy, NIID neuronal intranuclear inclusion disease, n.a. not available

ISSN: 2051-5960