Associated Papers
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.
Palu E et al.
Neurogenetics, 2023
Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.
Kawamoto N et al.
Journal of the Peripheral Nervous System : Jpns, 2023
A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.
Benquey T et al.
Journal of Neuromuscular Diseases, 2020
Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy.
Wu R et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2019
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.
Brožková D et al.
Muscle & Nerve, 2011
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