In affected members of the CMT2L family described by Tang et al. (2004), Tang et al. (2005) sequenced all known exons and intron-exon boundaries of 26 known candidate genes in the 12q24 region and identified a lys141-to-asn substitution ... In affected members of the CMT2L family described by Tang et al. (2004), Tang et al. (2005) sequenced all known exons and intron-exon boundaries of 26 known candidate genes in the 12q24 region and identified a lys141-to-asn substitution in the HSPB8 gene (K141N; 608014.0003). Tang et al. (2005) stated that this was the third time that a gene was shown to be mutant in both Charcot-Marie-Tooth disease and distal hereditary motor neuropathy (dHMN). Dominant mutations in the GARS gene (600287) are associated with CMT2D (601472) and dHMNVA (600794), and dominant mutations in the HSPB1 gene (602195) are associated with CMT2F (606595) and dHMN2B (608634).