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PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M. van Paassen BW, et al. Orphanet J Rare Dis. 2014 Mar 19;9:38. doi: 10.1186/1750-1172-9-38. Orphanet J Rare Dis. 2014. PMID: 24646194 Free PMC article. Review.
PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes …
PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 d …
Clinical implications of peripheral myelin protein 22 for nerve compression and neural regeneration: a review.
Hui-Chou HG, Hashemi SS, Hoke A, Dellon AL. Hui-Chou HG, et al. J Reconstr Microsurg. 2011 Jan;27(1):67-74. doi: 10.1055/s-0030-1267832. Epub 2010 Oct 25. J Reconstr Microsurg. 2011. PMID: 20976668 Review.
Hereditary neuropathy with liability to pressure palsies (HNPP), Charcot-Marie Tooth disease type 1A (CMT1A), Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy are all associated with defects in PMP22 gene. ...On the other end of the spectrum, CMT1 …
Hereditary neuropathy with liability to pressure palsies (HNPP), Charcot-Marie Tooth disease type 1A (CMT1A), Dejerine-Sottas …