Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

@article{Claramunt2005GeneticsOC,
  title={Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.},
  author={Reyes Claramunt and Laia Pedrola and Teresa Sevilla and A. L{\'o}pez de Munain and Jos{\'e} Berciano and Ana S{\'a}nchez Cuesta and B S{\'a}nchez-Navarro and Jose M. Mill{\'a}n and Gulam Mustafa Saifi and James R Lupski and Juan Jes{\'u}s V{\'i}lchez and Carmen Espin{\'o}s and Francesc Palau},
  journal={Journal of medical genetics},
  year={2005},
  volume={42 4},
  pages={358-65}
}
C harcot-Marie-Tooth (CMT) disease is a motor and sensory neuropathy with clinical and genetic heterogeneity. Patients usually present in the first or second decade of life with distal muscle atrophy in the legs, areflexia, foot deformity (mainly pes cavus), and steppage gait. In most cases, hands are also involved as the disease progresses. CMT is the most frequent inherited neuropathy, with a prevalence in Spain of 28 in 100 000. Based on electrophysiological studies and histopathologic… CONTINUE READING

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