Summary Charcot–Marie–Tooth disease is the most common inherited neuromuscular
disorder. There have been substantial advances in elucidating the molecular bases of this …

Many clinical phenotypes occur sporadically despite genetics contributing partly or entirely
to their cause. To what extent are de novo mutations the cause of sporadic traits? Locus …

Background The international Inherited Neuropathy Consortium (INC) was created with the
goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth …

Abstract Objective Charcot‐Marie‐Tooth disease (CMT) affects 1 in 2,500 people and is
caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is often …

Abstract Objective Charcot‐Marie‐Tooth (CMT) neuropathy with visual impairment due to
optic atrophy has been designated as hereditary motor and sensory neuropathy type VI …

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

Inherited neuropathies known as Charcot-Marie-Tooth (CMT) disease are genetically
heterogeneous disorders affecting the peripheral nerves, causing significant and slowly …

Abstract Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of
disorders sharing the same clinical phenotype, characterized by distal limb muscle wasting …

Abstract Charcot–Marie–Tooth (CMT) neuropathies are a group of genetically and
phenotypically heterogeneous disorders that predominantly affect the peripheral nervous …

This is a review of inherited and acquired causes of human demyelinating neuropathies and
a subset of disorders that affect axon–Schwann cell interactions. Nearly all inherited …