PMP22

1 article(s) in the watch · Constitutional genetics

PMP22 encodes a dosage-sensitive peripheral-myelin protein. Duplication causes Charcot-Marie-Tooth type 1A; deletion causes HNPP.

InheritanceAutosomal dominant

Clinical spectrumSensorimotor neuropathy (CMT1A), pressure-palsy neuropathy (HNPP)

ManagementRehabilitation, orthoses; avoid neurotoxic drugs; genetic counselling.

Curated publications

Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant

Hereditary demyelinating peripheral neuropathy (CMT1E / HNPP)