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
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