Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We refined the locus associated with DI-CMTB on chromosome 19p12-13.2 to 4.2 Mb in three unrelated families with CMT originating from Australia, Belgium and North America.
|
15731758 |
2005 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GDAP1, YARS, and the pleckstrin homology domain of dynamin 2 lead to an intermediate form of CMT that is characterized by moderately reduced nerve conduction velocity consistent with minor myelin deficits.
|
16856148 |
2006 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We identified two novel DNM2 mutations that cosegregated with purely axonal CMT in two pedigrees without clinical evidence of primary myopathy.
|
17636067 |
2007 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
LHGDN |
We identified two novel DNM2 mutations that cosegregated with purely axonal CMT in two pedigrees without clinical evidence of primary myopathy.
|
17636067 |
2007 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study suggests that the phenotypes of dynamin 2 related centronuclear myopathy and Charcot-Marie-Tooth disease overlap and that DNM2 mutations may alter cerebral function.
|
17825552 |
2007 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
This study suggests that the phenotypes of dynamin 2 related centronuclear myopathy and Charcot-Marie-Tooth disease overlap and that DNM2 mutations may alter cerebral function.
|
17825552 |
2007 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.
|
18394888 |
2008 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The purpose of the study was to prospectively assess magnetic resonance (MR) imaging findings of lower limb musculature in an axonal Charcot-Marie-Tooth disease (CMT2) pedigree due to mutation in the dynamin 2 gene (DNM2).
|
18560793 |
2008 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients with a dynamin 2 mutation presented with a classical Charcot-Marie-Tooth phenotype, which was mild to moderately severe since only 3% of the patients were wheelchair-bound.
|
19502294 |
2009 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Collectively, our results suggest that dyn2 regulates dynamic instability of microtubules, which is essential for organelle motility, and that this function may be impaired in CMT disease.
|
19528294 |
2009 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Whilst DNM2-related CMT may feature non-neurological findings including cataracts, this has not been reported in DNM2-related centronuclear myopathy.
|
19932620 |
2010 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
DNM2-CMT but not DNM2-CNM patients were noted to have neutropenia.
|
20817456 |
2010 |
Charcot-Marie-Tooth Disease
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Although ubiquitously expressed, DNM2 was found mutated in two genetic disorders affecting different tissues: autosomal dominant centronuclear myopathy (ADCNM; skeletal muscle) and peripheral Charcot-Marie-Tooth neuropathy (peripheral nerve).
|
21514436 |
2011 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dyn2 mutations have been linked to two human diseases, centronuclear myopathy (CNM) and Charcot-Marie-Tooth (CMT) disease.
|
21762456 |
2011 |
Charcot-Marie-Tooth Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
The only gene herein known to be associated with an intermediate type of CMT was Dynamin 2 (DNM2).
|
22091729 |
2011 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, CNM mutants were seen in association with enlarged clathrin stained structures whereas the CMT mutant constructs were associated with clathrin structures that appeared clustered, similar to the structures observed in Dnm1 and Dnm2 double knock-out cells.
|
22096584 |
2011 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT.
|
22396310 |
2012 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In addition to centronuclear myopathy, dynamin 2 is also mutated in a dominant form of Charcot-Marie-Tooth neuropathy.
|
22496665 |
2012 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in dynamin 2 (DNM2) have been linked to dominant Charcot-Marie-Tooth neuropathy and centronuclear myopathy.
|
23092955 |
2013 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DNM2 gene cause two hereditary neuromuscular disorders: dominant centronuclear myopathy and Charcot-Marie-Tooth peripheral neuropathy.
|
23609221 |
2013 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Different sets of DNM2 mutations are linked to dominant intermediate Charcot-Marie-Tooth neuropathy type B, a motor and sensory neuropathy affecting primarily peripheral nerves, or autosomal-dominant centronuclear myopathy (CNM) presenting with primary damage in skeletal muscles.
|
23813975 |
2013 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
|
25025039 |
2014 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dynamin2 (DNM2) gene mutations may result in Charcot-Marie-Tooth disease and centronuclear myopathy.
|
25492887 |
2015 |
Charcot-Marie-Tooth Disease
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Here we comprehensively compared the biochemical activities of disease-associated Dyn2 mutations and found that CNM-Dyn2 mutants are hypermorphic with enhanced membrane fission activity, whereas CMT-Dyn2 is hypomorphic.
|
26199319 |
2015 |
Charcot-Marie-Tooth Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dynamin 2 mutations have previously been associated with other phenotypes including two forms of Charcot-Marie-Tooth neuropathy and centronuclear myopathy.
|
26517984 |
2015 |