Charcot-Marie-Tooth disease (CMT) disease encompasses a genetically heterogeneous
group of inherited neuropathies, also known as hereditary motor and sensory neuropathies. …

First described at the end of the nineteenth century by French neurologists Jean Martin
Charcot and Pierre Marie and British neurologist Howard Henry Tooth, Charcot-Marie-Tooth (…

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 necessary for …

Myelin protein zero (MPZ) is a member of the immunoglobulin gene superfamily with single
extracellular, transmembrane and cytoplasmic domains. Homotypic interactions between …

The genetic neuropathies are a clinically and genetically heterogeneous group of diseases
of which the most common types are Charcot–Marie–Tooth disease (CMT), the hereditary …

… Michael E Shy … Shy), Wayne State University School of Medicine, Detroit, MI; Department
of Neurology (Dr. Frohman), UT Southwestern Medical Center, Dallas, TX; Department of …

Membrane-bound phosphoinositides are signalling molecules that have a key role in vesicle
trafficking in eukaryotic cells 1 . Proteins that bind specific phosphoinositides mediate …

Mutations in mitofusin 2 (MFN2) have been reported in Charcot–Marie–Tooth type 2 (CMT2)
families. To study the distribution of mutations in MFN2 we screened 323 families and …

Charcot–Marie–Tooth disease type 1A (CMT1A), the most frequent form of CMT, is caused
by a 1.5 Mb duplication on the short arm of chromosome 17. Patients with CMT1A typically …

The Charcot‐Marie‐Tooth neuropathy score (CMTNS) is a reliable and valid composite
score comprising symptoms, signs, and neurophysiological tests, which has been used in …