The PMP22 gene and its related diseases.
Li J, Parker B, Martyn C, Natarajan C, Guo J.
Li J, et al.
Mol Neurobiol. 2013 Apr;47(2):673-98. doi: 10.1007/s12035-012-8370-x. Epub 2012 Dec 7.
Mol Neurobiol. 2013.
PMID: 23224996
Free PMC article.
Review.
Levels of PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for >50 % of all patients with inherited peripheral neuropathies, including Charcot-Marie-Tooth type-1A (CMT1A) with trisomy of PMP22, hereditary …
Levels of PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for >50 % o …