Associated Papers
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA et al.
Genes, 2025
41300731 (PubMed )
Supplement: genes-16-01279-s001.zip › Supplementary_Table_S2___S3.pdf
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Ward KS et al.
Brain : a Journal of Neurology, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants.
Ward KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.
Mittendorf KF et al.
Biochemistry, 2014
25243937 (PubMed )
Supplement: bi500809t_si_001.pdf
Variable phenotypes are associated with PMP22 missense mutations.
Russo M et al.
Neuromuscular Disorders : Nmd, 2011
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