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
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group 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
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Therefore, DNM2 knockdown via two different strategies can efficiently correct the myopathy due to <i>DNM2</i> mutations, and it provides a common therapeutic strategy for several forms of centronuclear myopathy. 30291191 2018
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 AlteredExpression group BEFREE We previously found that dynamin 2 (DNM2) is upregulated in both Mtm1 knockout and patient muscle samples, whereas its reduction through antisense oligonucleotides rescues the clinical and histopathological features of this myopathy in mice. 29506908 2018
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE The histopathological findings indicate the coexistence of typical axonal neuropathy and chronic myopathy in DNM2-related neuromuscular diseases. 28971531 2018
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 AlteredExpression group BEFREE Here we show that systemic delivery of Dnm2 antisense oligonucleotides (ASOs) into Mtm1KO mice efficiently reduces DNM2 protein level in muscle and prevents the myopathy from developing. 28589938 2017
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Nuclear centralisation and internalisation, sarcoplasmic radiating strands and type 1 muscle fibre predominance and hypotrophy characterise dynamin-2 (DNM2) associated centronuclear myopathy, whereas necklace fibres are typically seen in late onset myotubularin-1 (MTM1)-related myopathy. 25633151 2015
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE The most severe form of the disease, X-linked centronuclear myopathy, is due to mutations in the gene encoding myotubularin (MTM1), while mutations in dynamin 2 (DNM2) and amphiphysin 2/BIN1 (AMPH2) cause milder forms of myopathy. 24569368 2014
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Mutations in amphiphysin-2/BIN1, dynamin 2, and myotubularin are associated with centronuclear myopathy (CNM), a muscle disorder characterized by myofibers with atypical central nuclear positioning and abnormal triads. 25262827 2014
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE The findings broaden the features of DNM2-myopathy. 20817456 2010
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE We identified two novel DNM2 mutations that cosegregated with purely axonal CMT in two pedigrees without clinical evidence of primary myopathy. 17636067 2007
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE These characteristic findings on muscle MRI confirm similar findings reported for CT imaging in dynamin 2 related dominant centronuclear myopathy and may help to differentiate this disorder from central core disease and other myopathies. 17134899 2007
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 CausalMutation group CLINVAR