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Zhao(M),Du(Q),Ding(Y),Wang(W) Medicine (Baltimore) 2025-07-04

...PMP22 gene (exon 1-5 deletion). Therefore, the final diagnosis was HNPP. The patient was treated with oral prednisone an...

Jiang(X),Mortlock(RD),Pironon(N),Zhou(J),H... Proc Natl Acad Sci U S A 2025-08-12

...PMP22) family, is associated with a Mendelian skin disorder in the progressive symmetric erythrokeratoderma spectrum. Th...

Zhu(J),Dai(S),Li(Y),Ma(M),Chu(M),Lin(Z),Su... Am J Case Rep 2025-08-25

...PMP22; [c.117G>C; p.(Trp39Cys)]}. Case 1 (daughter), in addition to CMT1E, was also diagnosed with respiratory disorders...

Qi(H),Wang(X),Wu(B),Chen(J),Zhang(G) Acta Neurol Belg 2025-12-00

...PMP22) gene. Patients commonly present with progressive weakness and atrophy of the distal muscles, accompanied by hyper...

Espallergues(J),Cadiet(J),Souab(F),Choquet... Mol Ther Methods Clin Dev 2025-09-11

...PMP22 shRNA decreased PMP22 expression in a dose-dependent manner and levels remained physiological. Perineural injectio...

Jumani(A),Rashwan(G),Ibrahim(H),Eissa(H),A... Cureus 2025-09-00

...PMP22 duplications (CMT1A), PMP22 deletions (HNPP), GJB1 mutation (CMTX), and SH3TC2 mutation (CMT4C). The CMT4C case ex...

Alhazmi(AS),Alhareeri(AA),Alhawas(AS),Jame... Neurosciences (Riyadh) 2025-10-00

...PMP22, and FGD4, with notable intra-tribe mutations suggesting a strong influence of consanguinity. The predominant mode...

Stefanski(KM),Huang(H),Luu(DD),Hutchison(J... bioRxiv 2025-10-04

...PMP22 partitioning and stabilized ordered domains. While discovered in a PMP22-focused screen, all three were seen to mo...

Karadima(Georgia),Koutsis(Georgios),Raftop... J Peripher Nerv Syst 2016-05-26

...PMP22 micromutation frequency was 2.2%. Within mutation-positive patients, the common deletion represented 95.7% and PMP...

Schlebach(Jonathan P),Narayan(Malathi),Alf... J Am Chem Soc 2016-05-23

...PMP22), the intracellular misfolding of which is known to cause peripheral neuropathies associated with Charcot-Marie-To...