Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

HIGHLIGHTS

  • who: Christoph Bachmann from the (UNIVERSITY) have published the article: Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies, in the Journal: (JOURNAL)
  • what: The authors investigated whether the expression of different groups of transcripts are similarly impacted in musu00ad cles from CM patients with AD and AR RYR1-related myopu00ad athies, SELENON-related MmD, KBTBD13-related nemaline myopathy and MTM1-related XL-MTM. The authors focus on the expression of transcripts inu00ad volved in muscle function, ECC, calcium homeostasis, conu00ad tractile and sarcomeric proteins were impacted. The results of this study . . .

     

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