Myogenesis is a complex cascade of events that involves the specification and differentiation of muscle precursor cells or myoblasts, their fusion to form primary and secondary myotubes and subsequent maturation into muscle fibres. In addition, the development of axial muscle requires the migration of muscle precursor cells. These events are under strict genetic control. The contribution of individual genes to this process has been highlighted both by the phenotype of mice with targeted inactivation of individual myogenic regulatory factors and by rare human disorders in which the involvement of these genes has been demonstrated. The inactivation of known myogenic regulatory genes is associated with abnormal regulation of skeletal muscle differentiation and has an effect on regeneration but does not cause progressive muscle weakness or wasting. This review summarises recent developments in this field and will be of particular relevance to those interested in neuromuscular disorders. We also examine the possibility that some rare human conditions associated with abnormal muscle formation may be due to genetic defects in one of the myogenic regulatory genes.