GNE and GNE myopathy: In sum, twelve mutations of the GNE gene were detected, among which c.830G>A (p.R277Q), c.1985C>T (p.A662V), c.620A>T (p.D207V), c.125G>A (p.R42Q), c.1616T>C (p.L539S), c.C577T (p.R193C) and c.C124T (p.R42W) have been previously described as pathogenic mutations of GNE myopathy.15, 16