Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders
affecting the peripheral nervous system. CMT is characterized by a clinically and genetically …

Abstract Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin
of the peripheral nervous system. Levels of PMP22 have to be tightly regulated since …

X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with
demyelination. Recently, this disorder was mapped to chromosome Xq13. 1. The gene for …

Abstract Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral
neuropathy, affecting 1 in 2,500 people. The only treatment currently available is …

Studies of mutagenesis in many organisms indicate that the majority (over 90%) of mutations
are recessive to wild type. If recessiveness represents the'default'state, what are the …

Abstract PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-
Marie-Tooth disease type 1A (CMT1A),(2) PMP22 deletions, leading to Hereditary …

Abstract Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy in
humans and has been associated with a partial duplication of chromosome 17 (CMT type …

Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory
neuropathy. The axonal form of the disease is designated as" CMT type 2"(CMT2). Although …

A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary
neuropathy with liability to pressure palsies (HNPP) was established to estimate the …

Peripheral myelin protein PMP22 has been suggested to have a role in peripheral nerve
myelination and cell proliferation. Defects at the PMP22 locus are associated with peripheral …