Associated Papers
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
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.
Vital A et al.
Journal of the Peripheral Nervous System : Jpns, 2013
Select a paper to view details