Deep morphological analysis of muscle biopsies from type iii glycogenesis (gsdiii), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

HIGHLIGHTS

• who: Pascal Laforêt from the France France have published the article: Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment, in the Journal: (JOURNAL)
• what: The authors performed an extensive analysis of morphology and ultrastructure of 30 GSDIII muscle biopsies collected through a large international multicenter collaboration. The authors aimed at demonstrating pathophysiologic pathways that could prove feasible targets for gene therapy.The study limitations were the retrospective design, the scarce amount of muscle samples to perform more extended immunohistochemical and protein . . .
  

   

  

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