Article
Myositis with sarcoplasmic inclusions in Nakajo-Nishimura syndrome: a genetic inflammatory myopathy.
Neuropathology and applied neurobiology - 1 Oct 2020
Ayaki T, Murata K, Kanazawa N, Uruha A, Ohmura K, Sugie K, Kasagi S, Li F, Mori M, Nakajima R, Sasai T, Nishino I, Ueno S, Urushitani M, Furukawa F, Ito H, Takahashi R
Abstract excerpt
AIMS: Nakajo-Nishimura syndrome (NNS) is an autosomal recessive disease caused by biallelic mutations in the PSMB8 gene that encodes the immunoproteasome subunit β5i. There have been only a limited number of reports on the clinicopathological features of the disease in genetically confirmed cases. METHODS: We studied clinical and pathological features of three NNS patients who all carry the homozygous p.G201V...
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