Advances in PMP22 sequence variant-associated hereditary neuropathy with liability to pressure palsies: from gene dosage effects to mechanism-informed variant interpretation
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy classically caused by a heterozygous deletion of the 17p11.2-p12 region encompassing PMP22. However, PMP22 sequence variants can produce HNPP-like or overlapping phenotypes, complicating variant interpretation. This narr...
Huan Li, You-Ping Wang, Cai-Xia Zhang et al.
· Frontiers in Neurology · 0 citations