Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy and one of the best-characterised examples of a submicroscopic genomic disorder. In most cases it is due to a submicroscopic duplication of the 1.4-Mb genomic region in chromosome band 17p12. This putative protein represents the product of transcript 4 in this region [].
