DNM2, dynamin 2, 1785

N. diseases: 155; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Myopathy, Centronuclear, Autosomal Dominant
0.800 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2017
Myopathy, Centronuclear, Autosomal Dominant
0.800 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 2017
Myopathy, Centronuclear, Autosomal Dominant
0.800 CausalMutation disease CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
Myopathy, Centronuclear, Autosomal Dominant
0.800 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 2014
Myopathy, Centronuclear, Autosomal Dominant
0.800 CausalMutation disease CLINVAR Clinical whole-exome sequencing for the diagnosis of mendelian disorders. 24088041 2013
Myopathy, Centronuclear, Autosomal Dominant
0.800 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
0.800 GeneticVariation 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
0.800 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
0.800 GeneticVariation disease UNIPROT Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 22396310 2012
Myopathy, Centronuclear, Autosomal Dominant
0.800 CausalMutation disease CLINVAR 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 2011
Myopathy, Centronuclear, Autosomal Dominant
0.800 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
0.800 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 2011
Myopathy, Centronuclear, Autosomal Dominant
0.800 CausalMutation disease CLINVAR Autosomal dominant centronuclear myopathy (AD-CNM) is due to mutations in the gene encoding dynamin 2 (DNM2) involved in endocytosis and intracellular membrane trafficking. 20858595 2011
Myopathy, Centronuclear, Autosomal Dominant
0.800 Biomarker disease BEFREE In addition to the feature of radial sarcoplasmic strands, the ratio of centrally to internalized nuclei might help to differentiate DNM2-CNM from other forms of CNM. 21221624 2011
Myopathy, Centronuclear, Autosomal Dominant
0.800 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 2011
Myopathy, Centronuclear, Autosomal Dominant
0.800 GeneticVariation disease UNIPROT Mutations in dynamin-2 (DNM2) cause autosomal dominant centronuclear myopathy (CNM). 20227276 2010
Myopathy, Centronuclear, Autosomal Dominant
0.800 GeneticVariation disease UNIPROT Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 19932620 2010
Myopathy, Centronuclear, Autosomal Dominant
0.800 GeneticVariation disease UNIPROT Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. 19932619 2010
Myopathy, Centronuclear, Autosomal Dominant
0.800 GeneticVariation disease BEFREE Mutations in dynamin-2 (DNM2) cause autosomal dominant centronuclear myopathy (CNM). 20227276 2010
Myopathy, Centronuclear, Autosomal Dominant
0.800 CausalMutation disease CLINVAR Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. 20529869 2010
Myopathy, Centronuclear, Autosomal Dominant
0.800 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
0.800 GeneticVariation disease UNIPROT A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. 19122038 2009
Myopathy, Centronuclear, Autosomal Dominant
0.800 GeneticVariation disease UNIPROT Distinct DNM2 mutations, affecting the middle domain (MD) and the Pleckstrin homology domain (PH), have been identified in autosomal dominant centronuclear myopathy (CNM) and in the intermediate and axonal forms of the Charcot-Marie-Tooth peripheral neuropathy (CMT). 19623537 2009
Myopathy, Centronuclear, Autosomal Dominant
0.800 GeneticVariation disease UNIPROT We report here the first CNM mutation (c.1948G>A, p.E650 K) in the DNM2 GTPase effector domain (GED), leading to a slowly progressive moderate myopathy. 19623537 2009
Myopathy, Centronuclear, Autosomal Dominant
0.800 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