Analysis of specific gene expressions related to chromatin regulation (Dnmt1, Hist1h2br), cell growth (Ppan), tip identity (Wnt11), cellular metabolism (Acot7, Adsl), and RTK signaling targets (Wnt11, Etv4) in isolated UB and MM populations confirmed the DEGs identified in RNA-seq (Additional file 1: Fig. S3B,C). The gene discussed is ADSL; the disease is Miyoshi myopathy.