Myogenin (Myf4) upregulation in trans-differentiating fibroblasts from a congenital myopathy with arrest of myogenesis and defects of myotube formation

We studied a novel case of a severe congenital myopathy with a failure of myotube formation

Claudia Weise

2006

Scholarcy highlights

  • Congenital myopathies often have an unclear aetiology
  • The temporal and spatial pattern of muscle regulatory factors was further characterized by immunocyto- and immunohistochemical stainings
  • Immunohistochemical analysis of normal and patient-derived skeletal musculature revealed that Myf4, which is downregulated during normal fetal development, was still present in patient-derived skeletal head muscle, which was positive for Desmin and sarcomeric actin
  • The abnormal upregulation of Myf4 and p21 in the patient who suffered from a severe congenital myopathy suggests that the regulation of Myf4 and p21 gene expression during myogenesis might be of interest for further studies
  • Rawls A, Valdez MR, Zhang W, previous research Overlapping functions of the myogenin bHLH genes MRF4 and MyoD revealed in double mutant mice
  • Et al Myogenin upregulation in trans-differentiating fibroblasts from a congenital myopathy with arrest of myogenesis and defects of myotube formation

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