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 CLINGEN Additionally, we demonstrate that CNM-related DNM2 mutations are associated with protein mislocalization and aggregation. 31691805 2019
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 Mutations in the DNM2 gene cause autosomal dominant centronuclear myopathy (CNM) and a knock-in mouse model expressing the most frequent human DNM2 mutation in CNM (Knock In-Dnm2<sup>R465W/+</sup>) develops a myopathy sharing similarities with human disease. 30733559 2019