Phenotypical variability and atypical presentations in a French cohort of Andersen

Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome

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作者： Rocio Nur Villar‐Quiles ^[1] ; Damien Sternberg ^[2] ; Grégoire Tredez ^[3] ; Norma Beatriz Romero ^[4] ; Teresinha Evangelista ^[5] ; Pascal Laf?ret ^[6] ; Pascal Cintas ^[7] ; Guilhem Sole ^[8] ; Sabrina Sacconi ^[9] ; Said Bendahhou ^[10] ; Jér?me Franques ^[11] ; Claude Cances ^[12] ; JB Noury ; Emilien Delmont ; Patricia Blondy ; Laurence Perrin ; Marianne Hezode ; Emmanuel Fournier ; Bertrand Fontaine ; Tanya Stojkovic ; Savine Vicart

作者单位： Reference Center for Neuromuscular Disorders,APHP ^[1] Reference Center for Muscle Channelopathies,APHP ^[2] Institute of Myology,Sorbonne Université – INSERM ^[3] Neurology Department,Pierre‐Paul Riquet Hospital ^[4] Neuromuscular Diseases and ALS Specialized Center,University of Nice‐Sophia Antipolis ^[5] UMR7370 CNRS,University of Nice‐Sophia Antipolis ^[6] Assistance Publique‐H?pitaux de Marseille,La Timone Hospital ^[7] AOC (Atlantique‐Occitanie‐Cara?be) Reference Centre for Neuromuscular Disorders,Toulouse University ^[8] Neurology Department,CHRU Cavale Blanche ^[9] Department of Neurology,University Hospital Timone ^[10] Pediatrics Department,Robert‐Débré Hospital ^[11] Reference Centre for Neuromuscular Disorders,Pellegrin Hospital CHU Bordeaux ^[12]

关键词 Andersen–Tawil syndrome channelopathy KCNJ2 long‐exercise ENMG test periodic paralysis

发布时间 2022-10-08

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