Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
对 III 型糖原生成 (GSDIII) 肌肉活检样本进行深度形态学分析,脱支酶缺乏,揭示了刻板空泡性肌病和自噬障碍
期刊:Acta Neuropathologica Communications
影响因子:6.2
doi:10.1186/s40478-019-0815-2
Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Paklez