Clinical examination, nerve conduction studies, and molecular and bioinformatics analyses were performed to identify patients with CMTX1.
On the other hand, genetic testing provides an exact diagnosis of a specific subtype of CMT, including CMT1A, CMT1B, CMT1C, CMT1D, CMT1F, CMTX1, CMT2A1, CMT2A2, CMT2B, and CMT2O.
sup] So far, five loci have been reported for CMTX: CMTX1 (OMIM 304040), CMTX2 (OMIM 302801), CMTX3 (OMIM 302802), CMTX4 (OMIM 310490), and CMTX5 (OMIM 311070).
sup] Although some cases have been reported to have “recessive” CMTX1, some obligate carriers among these have electrophysiological evidence of peripheral neuropathy.
sup] There is a gender-based predisposition, and males are usually more affected than females in CMTX1.
CNS involvement has been reported in CMTX1 patients.
CMTX1 (MIM 302800) is an X-linked dominant trait caused by mutations in the GJB1 [gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)] gene (3).
1G) are previously unreported novel mutations that further demonstrate the allelic heterogeneity of CMTX1.