An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration.

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作者： Lisanne,Hubregtse ^[1] ; Karlijn,Bouman ^[2] ; Chéryane,Lama ^[3] ; Saskia,Lassche ^[2] ; Nicolas,de Graaf ^[2] ; Valentina,Taglietti ^[3] ; Benno,Küsters ^[4] ; Baptiste,Periou ^[3] ; Frédéric,Relaix ^[3] ; Baziel,van Engelen ^[4] ; François-Jerôme,Authier ^[5] ; Nicol C,Voermans ^[2] ; Edoardo,Malfatti ^[6]

作者单位： Université Paris Est Créteil, INSERM, U955, IMRB, Créteil F-94010, France; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands. ^[1] The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands. ^[2] Université Paris Est Créteil, INSERM, U955, IMRB, Créteil F-94010, France. ^[3] Department of Pathology, Radboud university medical center, Nijmegen, the Netherlands. ^[4] Université Paris Est Créteil, INSERM, U955, IMRB, Créteil F-94010, France; Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, France. ^[5] Université Paris Est Créteil, INSERM, U955, IMRB, Créteil F-94010, France; Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, France. Electronic address: edoardo.malfatti@aphp.fr. ^[6]

关键词 Inflammation Muscle biopsies Muscular regeneration Myopathology

主题词人类(Humans);中年人(Middle Aged);肌营养不良, 面肩肱型(Muscular Dystrophy, Facioscapulohumeral);补体膜攻击复合物(Complement Membrane Attack Complex);活组织检查(Biopsy);肌, 骨骼(Muscle, Skeletal);再生(Regeneration)

DOI 10.1016/j.nmd.2024.01.003

PMID 38306719

发布时间 2024-03-04

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