‘dusty core disease’ (ducd): expanding morphological spectrum of ryr1 recessive myopathies

HIGHLIGHTS

• who: Matteo Garibaldi from the (UNIVERSITY) have published the research work: ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies, in the Journal: (JOURNAL)
• what: The authors report an extensive monocentric analysis of 54 muscle biopsies from a large cohort of 48 RYR1-recessive patients to have a homogenous interpretation of morphological findings with the aim to find a closer correlation between morphology, clinical phenotype and genetic background. Most of DuCD patients of this study, had been previously interpreted and classified as CNM with some atypical features (CNM "plus") because, at that time . . .
  

   

  

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