X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.

@article{Kennerson2016XlinkedCD,
  title={X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.},
  author={Marina L Kennerson and Eun Ja Kim and Anna H Siddell and Aditi Kidambi and Sung-min Kim and Young Bin Hong and Sun Hee Hwang and Ki Wha Chung and Byung-Ok Choi},
  journal={Journal of the peripheral nervous system : JPNS},
  year={2016},
  volume={21 1},
  pages={45-51}
}
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene have been found to cause X-linked dominant CMT type 6 (CMTX6). This study identified the p.R158H PDK3 mutation after screening 67 probable X-linked CMT families. The mutation fully segregated with the phenotype, and genotyping the family indicated the mutation arose on a different haplotype compared with the original Australian CMTX6 family… CONTINUE READING

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