A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation.

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第一作者： Yo-Suke,Nishii

第一单位： Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-0841, Japan.

作者： Yo-Suke,Nishii ^[1] ; Yu-Ichi,Noto ^[2] ; Rei,Yasuda ^[1] ; Takamasa,Kitaoji ^[1] ; Shinji,Ashida ^[1] ; Eijirou,Tanaka ^[1] ; Narihiro,Minami ^[3] ; Ichizo,Nishino ^[3] ; Toshiki,Mizuno ^[1]

作者单位： Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-0841, Japan. ^[1] Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-0841, Japan. y-noto@koto.kpu-m.ac.jp. ^[2] Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan. ^[3]

关键词 Asian case Muscle ultrasound Oculopharyngeal muscular dystrophy (OPMD)Point mutation Poly(a) binding protein nuclear 1 (PABPN1)

主题词老年人(Aged);女(雌)性(Female);人类(Humans);男(雄)性(Male);肌营养不良, 眼咽(Muscular Dystrophy, Oculopharyngeal);点突变(Point Mutation);Poly(A)结合蛋白质Ⅰ(Poly(A)-Binding Protein I)

DOI 10.1186/s12883-021-02300-x

PMID 34225694

发布时间 2021-07-19

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