Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are the two most common peripheral neuropathies, with incidences of about 1 in 2,500. Several techniques can be used to detect the typical 1.5-Mb duplication or deletion associated with these respective conditions, but none combines simplicity with high sensitivity. MLPA is a new tech...

charcot-marie-tooth disease (cmt) is the most common inherited neurological disorder, affecting both motor and sensory peripheral nerves. neurophysiological patterns divide cmt into three main groups: demyelinating cmt1 (upper limb motor nerve conduction velocity (mncv) <38 m/s), axonal cmt2 (mncv >38 m/s) and intermediate cmt (mncv 25-45 m/s). cmt has been also categorized based on the mode of...

The peripheral myelin protein 22 (PMP22) is a tetraspan membrane protein which is localised in the compact myelin of the peripheral nerves. In fibroblasts, where it was originally identified as growth arrest related factor 3 (Gas3), PMP22 has been shown to modulate cell proliferation; in the peripheral nervous system its roles are still debated. The duplication of PMP22 is the most common cause...

Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary demyelinating neuropathy linked with duplication of the peripheral myelin protein 22 (PMP22) gene. Transgenic C22 mice, a model of CMT1A, display many features of the human disease, including slowed nerve conduction velocity and demyelination of peripheral nerves. How overproduction of PMP22 leads to compromised myelin and axonal patho...

Following the publication of this article and a corrigendum (1) correcting a microscopy image in Figure 7C, the authors informed the editorial board that multiple histology images in Supplemental Figures 7 and 11 were incorrect. The db/+ vehicle image in Supplemental Figure 7A (representing 30 days of treatment) was taken from the same tissue block as the db/+ vehicle image in Supplemental Figu...