We show that the twenty NM mutants investigated here score at least one of the previously described cellular NM or actin myopathy associated phenotypes (Table 3), i.e. the cells display intranuclear or cytoplasmic rods, aggregates, blebs (only in differentiating myoblasts), diffuse cytoplasmic myc-actin staining or thickened actin fibres in myotubes. The gene discussed is GNE; the disease is congenital myopathy 2a, typical, autosomal dominant.