Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.

@article{Koutsis2012NovelPM,
  title={Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.},
  author={Georgios Koutsis and Amelie Pandraud and James M. Polke and Nicholas Wood and Marios Panas and Georgia Karadima and Henry Houlden},
  journal={Brain : a journal of neurology},
  year={2012},
  volume={135 Pt 8},
  pages={e217, 1-6; author reply e218, 1-2}
}
Sir, We read with interest the paper by Taioli et al. (2011) reporting eight different micromutations of PMP22 in patients with inherited demyelinating neuropathies. Small frameshift insertions/ deletions (indels), nonsense nucleotide substitutions and splice-site mutations led to phenotypically and pathologically variable neuropathies. Patients with mutations causing a premature or delayed stop codon had a phenotype within the hereditary neuropathy with liability to pressure palsies (HNPP… CONTINUE READING
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