A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

@article{Georgiou2002ANN,
  title={A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family},
  author={Domna-Maria Georgiou and Janez Zidar and Marko Koro{\vs}ec and Lefkos T. Middleton and Theodoros Kyriakides and Kyproula Christodoulou},
  journal={Neurogenetics},
  year={2002},
  volume={4},
  pages={93-96}
}
Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and sensory neuropathy. The autosomal dominant axonal form of the disease (CMT2) is currently subdivided into seven types based on genetic localization. These are CMT2A (1p35-p36), CMT2B (3q13-q22), CMT2C (unknown), CMT2D (7p14), CMT2E (8p21), HMNSP (3q13.1), and CMT2F (7q11-q21). Two loci have thus far been identified for autosomal recessive CMT2; ARCMT2A (1q21.1-q21.3) and ARCMT2B (19q13.3). Mutations in four genes… CONTINUE READING

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