A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.

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第一作者： Saki,Uneoka

第一单位： Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

作者： Saki,Uneoka ^[1] ; Tomoko,Kobayashi ^[2] ; Yurika,Numata-Uematsu ^[3] ; Yoshitsugu,Oikawa ^[1] ; Yu,Katata ^[1] ; Yukimune,Okubo ^[1] ; Yu,Abe ^[1] ; Atsuo,Kikuchi ^[4] ; Jun,Takayama ^[5] ; Gen,Tamiya ^[5] ; Shigeo,Kure ^[1] ; Kayoko,Saito ^[6] ; Mitsugu,Uematsu ^[1]

作者单位： Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. ^[1] Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan. ^[2] Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. Electronic address: yurika.uematsu.b5@tohoku.ac.jp. ^[3] Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan; Department of Rare Disease Genomics, Tohoku University School of Medicine, Sendai, Japan. ^[4] Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan; Department of Rare Disease Genomics, Tohoku University School of Medicine, Sendai, Japan; Department of AI and Innovative Medicine, Tohoku University School of Medicine, Sendai, Japan; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan. ^[5] Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. ^[6]

关键词 Fasciculation MYBPC1 Spinal muscular atrophy Tongue movements

主题词儿童, 学龄前(Child, Preschool);人类(Humans);肌萎缩, 脊髓性(Muscular Atrophy, Spinal);突变(Mutation);震颤(Tremor);舌(Tongue)

DOI 10.1016/j.pediatrneurol.2023.06.002

PMID 37392669

发布时间 2023-08-07

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