DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: Myopathy, Centronuclear, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
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
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		0.700 Biomarker disease BEFREE To address these gaps in knowledge, we developed transgenic zebrafish expressing either wild type dynamin 2 or dynamin 2 with either a CNM or CMT mutation. 31691805 2019
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
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