Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.

  title={Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.},
  author={Steven K. Baker and Cara C Reith and Peter J. Ainsworth},
  journal={Muscle & nerve},
  volume={38 5},
Charcot-Marie-Tooth disease (CMT) is among the most common inherited disorders of the peripheral nervous system, and it is broadly categorized as demyelinating type 1 or axonal type 2 based on nerve conduction studies. Mutations in discrete genes usually segregate into a single phenotype. However, mutations in connexin 32 (Cx32) can produce both axonal and demyelinating CMT phenotypes. Although over 300 mutations have been described in Cx32, somatic mosaicism has only been reported once… CONTINUE READING


Publications referenced by this paper.
Showing 1-10 of 22 references

Decomposition motor unit number estimation in CMT-1X and CMT-1A

RA Lewis, AF Hahn, +3 authors ME Shy
J Peripher Nerv Syst • 2007

Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology • 2004

Similar Papers

Loading similar papers…