Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

@article{Senderek2003MutationsIA,
  title={Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.},
  author={J. Senderek and C. Bergmann and C. Stendel and J. Kirfel and N. Verpoorten and P. de Jonghe and V. Timmerman and R. Chrast and M. Verheijen and G. Lemke and E. Battaloğlu and Y. Parman and S. Erdem and E. Tan and H. Topaloḡlu and A. Hahn and W. M{\"u}ller-Felber and N. Rizzuto and G. Fabrizi and M. Stuhrmann and S. Rudnik‐Sch{\"o}neborn and S. Z{\"u}chner and J. Michael Schr{\"o}der and E. Buchheim and V. Straub and J. Klepper and K. Huehne and B. Rautenstrauss and R. B{\"u}ttner and E. Nelis and K. Zerres},
  journal={American journal of human genetics},
  year={2003},
  volume={73 5},
  pages={
          1106-19
        }
}
Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. CMT4C is inherited as an autosomal recessive trait and has been mapped to a 13-cM linkage interval on chromosome 5q23-q33. By homozygosity mapping and allele-sharing analysis, we refined the CMT4C locus to a suggestive critical region of 1.7 Mb. We subsequently identified mutations in an… Expand
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