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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Sonraí Bibleagrafaíochta
Main Authors: van Paassen, Barbara W, van der Kooi, Anneke J, van Spaendonck-Zwarts, Karin Y, Verhamme, Camiel, Baas, Frank, de Visser, Marianne
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2014
Ábhair:
Review
Rochtain Ar Líne: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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