Article
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
Orphanet journal of rare diseases - 19 Mar 2014
van Paassen Barbara W, van der Kooi Anneke J, van Spaendonck-Zwarts Karin Y, Verhamme Camiel, Baas Frank, de Visser Marianne
Abstract excerpt
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. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The...
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