The predicted deletion of 61 amino acids (p.G545_D605del) in the kinase domain of GNE would be expected to result in an extremely hypomorphic or null allele, and thus the weakness in Subject 3 could possibly be a result of haploinsufficiency of GNE. Mutations showing incomplete dominance have been documented for other recessive myopathies [35-37]. The gene discussed is GNE; the disease is myopathy.