Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been implicated in CMT disease. ARSs are ubiquitously expressed, essential enzymes that ligate amino acids to cognate tRNA molecules. Recently, a p.Arg329H...

Specific mutations in dynamin 2 are linked to Charcot-Marie-Tooth disease (CMT), an inherited peripheral neuropathy. However, the effects of these mutations on dynamin function, particularly in relation to the regulation of the actin cytoskeleton remain unclear. Here, selected CMT-associated dynamin mutants were expressed to examine their role in the pathogenesis of CMT in U2OS cells. Ectopic e...

INTRODUCTION Charcot-Marie-Tooth disease (CMT) is a heterogeneous inherited neuropathy. The number of known CMT genes is rapidly increasing mainly due to next-generation sequencing technology, at present more than 70 CMT-associated genes are known. We investigated whether variants in the DCTN2 could cause CMT. MATERIAL AND METHODS Fifty-nine Norwegian CMT families from the general population ...

OBJECTIVE (1) To present the magnetic resonance imaging (MRI) findings of congenital muscular torticollis (CMT) of subjects who underwent surgical release and subjects who showed a good prognosis with stretching exercises and (2) to correlate the MRI findings with the histopathologic findings of CMT for subjects who underwent surgical release in order to examine the hypothesis that the MRI find...

Charcot-Marie-Tooth disease (CMT) is an inherited disorder of the peripheral nerves, which involves slowly progressive weakness and atrophy of the distal muscles (Charcot and Marie, 1886; Tooth, 1886). CMT is a type of hereditary motor and sensory neuropathy that exhibits both clinical and genetic heterogeneity (Dyck et al., 1993; Lupski et al., 1991a). Clinical features include initial weaknes...

OBJECTIVE The purpose of this study was to examine the effectiveness of compassionate mind training (CMT) on symptoms of depression and anxiety in Iranian depressed sufferers. METHOD Nineteen depressed patients aged 20 to 40 (Beck Depression Inventory value ≥ 20) were randomly assigned into two groups. The experimental group participated in 12 sessions of group therapy based on Paul Gilbert's...

S U M M A R Y We determine centroid-moment tensor (CMT) solutions by minimizing waveform differences between observed and simulated seismograms based on an adjoint method. Synthetic seismograms and Fréchet derivatives are calculated based on a spectral-element method. The non-linear adjoint CMT inversion algorithm requires three simulations for each iteration: one ‘forward’ simulation to obtain...

Copy number variations (CNVs) are important in relation to diversity and evolution but can sometimes cause disease. The most common genetic cause of the inherited peripheral neuropathy Charcot-Marie-Tooth disease is the PMP22 duplication; otherwise, CNVs have been considered rare. We investigated CNVs in a population-based sample of Charcot-Marie-Tooth (CMT) families. The 81 CMT families had pr...

Hypodontia of permanent teeth was evaluated from orthopantomograms of 2072 apparently healthy pediatric patients at The Hospital of Nihon University School of Dentistry at Matsudo. The prevalence of congenitally missing teeth (CMT) was 8.7% in boys and 10.8% in girls, and 9.4% for both sexes combined. Most cases (67.8%) involved either one or two missing teeth. There were in total 574 CMT, and ...

The Charcot-Marie-Tooth (CMT) neuropathies divide into two main electrophysiological groups with slow and near normal conduction velocities corresponding to Schwann cell and axonal pathology. An intermediate group also exists with nerve conduction velocities, which overlaps the two main groups. Families with intermediate CMT can be recognized in which different affected individuals in the same ...