H&E staining and immunohistochemical staining of the frozen skeletal muscle sections showed that the skeletal muscle of the six myopathy patients had morphological features of regeneration, such as internalized nuclei (in dashed black loops, Fig. 1b), and expressed high levels of neural cell adhesion molecule (NCAM) (brown) (Fig. 1c), a marker of muscle regeneration57. The gene discussed is CHL1; the disease is myopathy.