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 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
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 Biomarker disease CTD_human Our findings expand the phenotypical spectrum associated with RYR1 mutations and indicate that RYR1 screening should be considered in centronuclear myopathy patients without MTM1 or DNM2 mutations; muscle MRI may aid selection of appropriate genetic testing. 17376685 2007
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 Biomarker disease BEFREE In all 10 DNM2-CNM patients, muscle computer tomography assessment showed a consistent pattern of muscular involvement and a characteristic temporal course with early and predominant distal muscle involvement, and later affection of the posterior thigh compartment and gluteus minimus muscles. 16585051 2006
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE Centronuclear myopathy with neonatal onset caused by a DNM2 mutation in the C-terminal part of the pleckstrin homology domain may have a favorable prognosis and follow a course similar to adult-onset centronuclear myopathy. 19932619 2010
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 Biomarker disease BEFREE Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves. 23813975 2013
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 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 GeneticVariation disease BEFREE Recently, different missense mutations in the dynamin 2 gene (DNM2, 19p13.2) have been shown to cause autosomal dominant CNM. 19130742 2009
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. 21514436 2011
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE The transfected mutants showed reduced labeling in the centrosome, suggesting that DNM2 mutations might cause centronuclear myopathy by interfering with centrosome function. 16227997 2005
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 This is the first report of DNM2-related CNM presenting with myotonia. 24366529 2014
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 Heterozygous mutations in dynamin 2 (DNM2) have been linked to dominant Charcot-Marie-Tooth neuropathy and centronuclear myopathy. 23092955 2013
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE Taken together, these mild functional defects are suggestive of differences between CMT and CNM disease-causing dynamin 2 mutants and suggest that a slight impairment in clathrin-mediated pathways may accumulate over time to foster the respective human diseases. 22096584 2011
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 CausalMutation disease CLINVAR
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 GeneticVariation disease BEFREE Dyn2 mutations have been linked to two human diseases, centronuclear myopathy (CNM) and Charcot-Marie-Tooth (CMT) disease. 21762456 2011
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 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 GeneticVariation disease BEFREE Three CNM-causing genes have been identified, with MTM1 mutations provoking X-linked myotubular myopathy, DNM2 mutations provoking autosomal dominant (AD) CNM, and BIN1 mutations provoking autosomal recessive (AR) CNM. 23938035 2014
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE Our results expand the phenotypic spectrum of dynamin 2-related centronuclear myopathy from the classic mild form to the more severe neonatal phenotype. 17932957 2007
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 Biomarker disease BEFREE Necklace fibers were seen neither in DNM2- or BIN1-related CNM nor in males with classical XLMTM. 19084976 2009