Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

@article{Roa1993DejerineSottasSA,
  title={Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene},
  author={Benjamin B. Roa and Peter J. Dyck and Harold G. Marks and Phillip F. Chance and James R Lupski},
  journal={Nature Genetics},
  year={1993},
  volume={5},
  pages={269-273}
}
Dejerine–Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. Clinical symptoms are similar but more severe than Charcot–Marie–Tooth disease type 1 (CMT1), of which the major subtype, CMT1 A, results either from duplication of a 1.5–megabase DNA region in chromosome 17p11.2–p12 containing the myelin gene PMP22, or from PMP22 point mutation. Mutational analysis of the PMP22 coding region in two unrelated… CONTINUE READING
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