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: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 GeneticVariation disease BEFREE In this study, we tested allele-specific inactivation or correction of a heterozygous mutation in the Dynamin 2 (DNM2) gene that causes the autosomal dominant form of centronuclear myopathies (CNMs), a rare muscle disorder belonging to the large group of congenital myopathies. 30925452 2019
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 GeneticVariation disease BEFREE We show that dynamin 2, whose mutations cause centronuclear myopathy (CNM), regulates both clathrin plaques and surrounding branched actin filaments, while CNM-causing mutations lead to desmin disorganization in a CNM mouse model and patient biopsies. 30601711 2019
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE Collectively, our SICM-FCM findings at single CCP level, backed up by electron microscopy data, argue for the impairment of several forms of endocytosis in <i>DNM2</i>-linked CNM.-Ali, T., Bednarska, J., Vassilopoulos, S., Tran, M., Diakonov, I. 31017801 2019
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model. 30733559 2019
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 GeneticVariation disease BEFREE Dominant mutations in DNM2 result in tissue specific diseases affecting peripheral nerves (Charcot-Marie-Tooth neuropathy, CMT) or skeletal muscles (Centronuclear myopathy, CNM). 31628461 2019
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE Our results demonstrate a robust DNM2 knockdown and provide an alternative strategy based on reduction of DNM2 to treat myotubular myopathy. 29506908 2018
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 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
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE Mutations of Dynamin 2 (DNM2) are responsible for several forms of neuromuscular disorder such as centronuclear myopathy, Charcot-Marie-Tooth disease (CMT) dominant intermediate type B, CMT 2M, and lethal congenital contracture syndrome 5. 28971531 2018
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 GeneticVariation disease 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: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE The <i>DNM2</i> gene was previously found to be mutated in Charcot-Marie-Tooth neuropathy-type CMT2M and centronuclear myopathy (CNM). 29670510 2018
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE A distal pattern of involvement was present in DNM2-CNM patients. 30232666 2018
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 GeneticVariation disease BEFREE Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia and Hereditary Spastic Paraplegia, but red cell abnormalities have not been reported to date. 28466468 2017
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice. 28589938 2017
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE Our data suggest that DNM2 modulation has potential as a therapeutic approach for patients with CNM and BIN1 defects. 29130937 2017
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 GeneticVariation disease BEFREE Expression of dynamin-2 constructs carrying CNM-linked mutations disrupted the formation of new actin filaments as well as the stimulus-induced translocation of GLUT4 to the plasma membrane. 28676641 2017
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 GeneticVariation disease BEFREE Further targeted Sanger DNA sequencing of DNM2 found the 1106G>A (p.R369Q) mutation in patients 1 and 2, the c.1393C>T (p.R465W) mutation in patient 3, and the c.1565G>A (p.R522H) mutation in patient 4, all of which were reported previously to be causative mutations of DNM2-related CNM. 26908122 2016
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE Our findings support the concept that necklace fibres may occasionally be found in DNM2-related myopathy, possibly indicating a common pathogenic mechanism in DNM2 and MTM1 associated centronuclear myopathy. 25633151 2015
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 GeneticVariation disease BEFREE To date, five different CNM-related DNM2 mutations have been observed in China. 25501959 2015
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 GeneticVariation disease BEFREE Dynamin 2 mutations have previously been associated with other phenotypes including two forms of Charcot-Marie-Tooth neuropathy and centronuclear myopathy. 26517984 2015
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 GeneticVariation disease BEFREE Here, we present a patient suffering from cardiomyopathy and centronuclear myopathy with repetitive discharges and mild axonal neuropathy due to DNM2 mutation. 25492887 2015
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE Our results demonstrate that CNM-Dyn2 mutants are gain-of-function mutations, and their primary effect in muscle is T-tubule disorganization, which explains the susceptibility of muscle to Dyn2 hyperactivity. 26199319 2015
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 GeneticVariation disease BEFREE Our aim was to determine the genetic basis and physiopathology of patients with mild dominant centronuclear myopathy without mutations in DNM2. 25260562 2014
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE Dynamin 2 the rescue for centronuclear myopathy. 24569368 2014
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease BEFREE These observations may explain defects in membrane trafficking reported in CNM patient cells and in heterologous systems expressing CNM-associated Dyn2 mutants. 24016602 2014
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.900 Biomarker disease 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