Myogenesis Defects in a Patient-Derived iPSC Model of Hereditary GNE Myopathy

Scientists studied the underlying mechanisms of UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase myopathy (GNEM) using a patient-derived induced pluripotent stem-cell (iPSC) model. Control and patient-specific iPSCs were differentiated down a skeletal muscle lineage, whereby patient-derived GNEM iPSC clones were able to recapitulate key characteristics of the human pathology and further demonstrated defects in myogenic progression.