Myositis with sarcoplasmic inclusions in Nakajo‐Nishimura syndrome: a genetic inflammatory myopathy,Neuropathology and Applied Neurobiology

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Myositis with sarcoplasmic inclusions in Nakajo‐Nishimura syndrome: a genetic inflammatory myopathy
Neuropathology and Applied Neurobiology ( IF 5 ) Pub Date : 2020-03-25 , DOI: 10.1111/nan.12614
T Ayaki ₁ , K Murata ₂ , N Kanazawa ₃ , A Uruha _{4,

5,

6} , K Ohmura ₇ , K Sugie ₈ , S Kasagi ₉ , F Li ₁₀ , M Mori ₁₁ , R Nakajima ₇ , T Sasai ₇ , I Nishino ₄ , S Ueno ₈ , M Urushitani ₁₂ , F Furukawa ₃ , H Ito ₁₁ , R Takahashi ₁

Affiliation

Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Center for Educational Research and Development, Wakayama Medical University, Wakayama, Japan.
Department of Dermatology, Wakayama Medical University, Wakayama, Japan.
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
Department of Genome Medicine Development, Medical Genome Center, Kodaira, Tokyo, Japan.
Department of Neuropathology, Charité - Universitätsmedizin, Berlin, Germany.
Department of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Sakyo-ku, Kyoto, Japan.
Department of Neurology, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
Minato Motomachi Internal Medicine Clinic, Kobe, Hyogo, Japan.
Department of Neurology, Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
Department of Neurology, Wakayama Medical University, Wakayama, Japan.
Department of Neurology, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu City, Shiga, Japan.

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.

中文翻译：

Nakajo-Nishimura 综合征伴肌浆包涵体的肌炎：一种遗传性炎症性肌病

Nakajo-Nishimura 综合征 (NNS) 是一种常染色体隐性疾病，由编码免疫蛋白酶体亚基 β5i 的 PSMB8 基因中的双等位基因突变引起。关于基因确诊病例中该疾病的临床病理特征的报告数量有限。

更新日期：2020-03-25

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