...PMP22, GJB1, MPZ, MFN2), at least 51 genes and loci have been found to cause CMT when mutated, creating difficulties for...
...PMP22 duplication was the most common genetic cause, followed by mutations in GJB1 and MPZ. In axonal CMT, GJB1 was the ...
...PMP22 may be associated with demyelination in dbdb mice. Indeed, PMP22 was found to be carbonylated and aggregated in sc...
...PMP22. Therapeutic approaches are currently aiming at correcting PMP22 over-expression. It is unknown whether PMP22 can ...
...PMP22, UGT8, and ERBB3). We studied gene expression before and after CBT.,The BioM-10 prediction score discriminated pat...
...PMP22 confirming the diagnosis of HNPP. Our data suggest that neurophysiological studies are essential to characterize u...
...PMP22 resulted in increased proliferation and the G3BP1-mediated effect on proliferation was not seen upon PMP22-depleti...
...PMP22 deficiency. However, the function of PMP22 has yet to be defined. Our previous study has shown that PMP22 deficien...
...PMP22) duplication, 4 of which showed demyelination, 4 of which showed incrassation of myelin sheath, and two of which s...
...PMP22, EGR2 and NEFL genes.,Among the Chinese CMT patients 31.9% are caused by PMP22 duplication, 6.2% by CX32, and 0.9%...
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