Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in dynamin 2 cause dominant centronuclear myopathy.
|
16227997 |
2005 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Mutations in dynamin 2 cause dominant centronuclear myopathy.
|
16227997 |
2005 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
Biomarker
|
disease |
CTD_human |
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
|
17376685 |
2007 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations affecting different domains of dynamin-2 (DNM2) were associated alternatively with autosomal dominant centronuclear myopathy or dominant intermediate (demyelinating and axonal) Charcot-Marie-Tooth disease (CMT) type B.
|
17636067 |
2007 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM) and AD Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B).
|
17825552 |
2007 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
|
17932957 |
2007 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dynamin 2 (DNM2) have been associated with autosomal dominant centronuclear myopathy, dominant intermediate Charcot-Marie-Tooth (CMT) type B and CMT2.
|
18394888 |
2008 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dynamin 2 (DNM2) mutations cause autosomal dominant centronuclear myopathy, a rare form of congenital myopathy, and intermediate and axonal forms of Charcot-Marie-Tooth disease, a peripheral neuropathy.
|
20127478 |
2010 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dynamin-2 (DNM2) cause autosomal dominant centronuclear myopathy (CNM).
|
20227276 |
2010 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Necklace fibers were considered as a pathological hallmark of late onset X-linked CNM due to mutations in MTM1 but have not been observed in DNM2-CNM.
|
20817456 |
2010 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To understand the pathomechanisms resulting from a DNM2 mutation, we generated a knock-in mouse model expressing the most frequent AD-CNM mutation (KI-Dnm2(R465W)).
|
20858595 |
2010 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
Biomarker
|
disease |
BEFREE |
Both the percentage of muscle fibers with centralized nuclei and the ratio of muscle fibers with centralized to internalized nuclei were higher in DNM2-CNM compared to non-DNM2-CNM (50% vs. 18% and 94% vs. 63%).
|
21221624 |
2011 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
Biomarker
|
disease |
CLINGEN |
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 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
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 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
|
22396310 |
2012 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
Biomarker
|
disease |
BEFREE |
These results indicate that the clinicopathological features of DNM2-CNM are rather homogeneous and can be distinguished from the features of non-DNM2-CNM.
|
22613877 |
2012 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dynamin 2 (DNM2) gene cause autosomal dominant centronuclear myopathy and occur in around 50% of patients with centronuclear myopathy.
|
23394783 |
2013 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
Biomarker
|
disease |
BEFREE |
Thus, we used cell type-specific gene ablation to examine the consequences of DNM2 loss in skeletal muscle cells, the major relevant cell type involved in CNM.
|
23813975 |
2013 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
Biomarker
|
disease |
CLINGEN |
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.
|
26273216 |
2015 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results showing, a continuum between CNM and CMTDIB phenotypes in zebrafish, similarly to the human conditions, confirm this animal model to be a powerful tool to investigate mutations of DNM2 in vivo.
|
26842864 |
2016 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-dominant centronuclear myopathy-1 (CNM1) results from mutations in the dynamin 2 gene (DNM2) and accounts for approximately 50 % of all CNM cases.
|
26908122 |
2016 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding dynamin 2 (DNM2) are responsible for autosomal dominant centronuclear myopathy (AD-CNM).
|
29071728 |
2017 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Restoring either muscle force in a CNM mouse model or DNM2 function in patient-derived cells is an essential breakthrough towards future gene-based therapy for dominant centronuclear myopathy.
|
29246969 |
2018 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
Biomarker
|
disease |
BEFREE |
Restoring either muscle force in a CNM mouse model or DNM2 function in patient-derived cells is an essential breakthrough towards future gene-based therapy for dominant centronuclear myopathy.
|
29246969 |
2018 |
Myopathy, Centronuclear, Autosomal Dominant
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant mutations in the ubiquitously expressed DNM2 cause 2 discrete neuromuscular diseases: autosomal dominant centronuclear myopathy (ADCNM) and dominant intermediate Charcot-Marie-Tooth neuropathy (CMT).
|
30426359 |
2018 |