A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

@article{Lorenzetti1995A1D,
  title={A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.},
  author={Diego Lorenzetti and Davide Pareyson and Angelo Sghirlanzoni and Benjamin B. Roa and Nacer Eddine Abbas and Massimo Pandolfo and Stefano Di Donato and James R Lupski},
  journal={American journal of human genetics},
  year={1995},
  volume={56 1},
  pages={91-8}
}
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathies. A 1.5-Mb deletion in chromosome 17p11.2-p12 has been associated with HNPP. Duplication of the same 1.5-Mb region is known to be associated with Charcot-Marie-Tooth disease type 1 (CMT1A), a more severe peripheral neuropathy characterized by symmetrically slowed nerve conduction velocity (NCV). The CMT1A duplication and HNPP deletion appear to be the… CONTINUE READING

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