GJC2 and Pelizaeus-Merzbacher-like disease: Major causative pathogenic variants for PMLD are variants in GJC2 (also known as GJA12) (encoding connexin 47) [2] and minor ones are variants in HSPD1 (encoding mitochondrial heat-shock protein 60) [3], SNAP29 (encoding synaptosomal-associated protein 29) [4], RARS (encoding arginyl-tRNA synthetase) [5], AIMP1 (encoding aminoacyl-tRNA synthetase-interacting multi-functional protein 1) [6].