PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

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 usu...

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Main Authors: van Paassen, Barbara W, van der Kooi, Anneke J, van Spaendonck-Zwarts, Karin Y, Verhamme, Camiel, Baas, Frank, de Visser, Marianne
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
Assuntos:
Review
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3994927/
https://ncbi.nlm.nih.gov/pubmed/24646194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-38
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