A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24
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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, θ = 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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