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The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1.

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第一作者： Kristofoor E,Leeuwenberg

第一单位： Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud Research Institute for Medical Innovation, Nijmegen, The Netherlands. kris.e.leeuwenberg@radboudumc.nl.

作者： Kristofoor E,Leeuwenberg ^[1] ; Johanna E,Bruijnes ^[2] ; Llse,Karnebeek ^[3] ; Fran,Smulders ^[3] ; Sandra,Altena-Rensen ^[4] ; Caroline M L,Gorissen-Brouwers ^[2] ; Sylvia,Klinkenberg ^[2] ; Catharina G,Faber ^[2] ; Hilde,Braakman ^[4] ; Karlien,Mul ^[3]

作者单位： Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud Research Institute for Medical Innovation, Nijmegen, The Netherlands. kris.e.leeuwenberg@radboudumc.nl. ^[1] Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands. ^[2] Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud Research Institute for Medical Innovation, Nijmegen, The Netherlands. ^[3] Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center & Donders Institute for Brain, Cognition and Behavior, Nijmegen, Netherlands. ^[4]

关键词 Clinical Diagnosis Myotonic dystrophy

医学主题词人类(Humans);营养不良性肌强直(Myotonic Dystrophy);延迟诊断(Delayed Diagnosis);年龄因素(Age Factors)

DOI 10.1186/s13023-025-03920-z

PMID 40804685

发布时间 2025-09-03

基金项目

101080249/SIMPATHIC (Horizon Europe)

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准确一般字义偏差语意偏离译文作用小提交