DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 CLINGEN Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 17932957 2007
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 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 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 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 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 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 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 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 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 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 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 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 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
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