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  • Title: A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.
    Author: Kim HJ, Hong SH, Ki CS, Kim BJ, Shim JS, Cho SH, Park JH, Kim JW.
    Journal: Neurology; 2005 Jun 14; 64(11):1964-7. PubMed ID: 15955956.
    Abstract:
    The authors describe a Korean family with X-linked recessive Charcot-Marie-Tooth disease (CMT) having deafness and optic neuropathy. An X chromosome-wide linkage analysis identified a 15.2-cM candidate region flanked by DXS990 and DXS8067 on Xq21.32-q24 with the maximum lod score at DXS8077 (3.62, theta = 0.00). This locus does not overlap previously identified four loci for X-linked CMT, and the authors propose it as CMTX5.
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