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Fig. 1 | Acta Neuropathologica Communications

Fig. 1

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

Fig. 1

Detection of CGG repeat expansions in LRP12.a Pedigree of the family. The individuals suffering from OPDM are indicated by solid symbols. The family shows autosomal dominant inheritance. b Repeat-primed PCR analysis using frozen frontal cortex obtained from the proband (a, III-5) demonstrates CGG repeat expansions in LRP12 (upper panel), whereas no such expansions are evident in the control (lower panel). In the proband, there were no pathological tandem repeat expansions in FMR1, NBPF19, LOC642361/NUTM2B-AS1, or PABPN1, genetically excluding the possibility of fragile X tremor/ataxia syndrome (FXTAS), neuronal intranuclear inclusion disease 1 (NIID1), oculopharyngeal myopathy with leukoencephalopathy 1 (OPML1), or oculopharyngeal muscular dystrophy (OPMD). P, proband

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Acta Neuropathologica Communications

ISSN: 2051-5960

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