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 This is the first report of DNM2-related CNM presenting with myotonia. 24366529 2014
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 We report clinical, morphological, muscle imaging and genetic data of 10 unrelated Italian patients with centronuclear myopathy related to DNM2 mutations. 23394783 2013
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE Mutations in the DNM2 gene cause two hereditary neuromuscular disorders: dominant centronuclear myopathy and Charcot-Marie-Tooth peripheral neuropathy. 23609221 2013
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE This novel causative mutation (D614N) within the DNM2 gene in a large Polish centronuclear myopathy family with a late age of overt clinical manifestation caused profound changes in DNM2 localization and impaired proper organization of myofibers, and skeletal muscle functioning. 23374900 2013
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 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 In this report, we describe the histological changes in the extraocular muscle (EOM) from a CNM patient with a mutation in Dynamic 2 (DNM2). 22924779 2013
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE Mutations in myotubularin, amphiphysin 2 (BIN1), and dynamin 2 lead to different forms of centronuclear myopathy, while mutations in myotubularin-related proteins cause Charcot-Marie-Tooth neuropathies. 22496665 2012
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. 22396310 2012
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2. 22613877 2012
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 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 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 Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. 21221624 2011
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. 20858595 2010
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 Biomarker disease BEFREE Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276 2010
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE Mutations in dynamin 2 and amphiphysin 2 genes lead to autosomal forms of centronuclear myopathy (CNM). 20434914 2010
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE This mini-review lays emphasis on the particular histopathological abnormalities associated with specific gene mutations, the high significance of establishing a distinction between nuclear centralisation (i.e. the presence of one nucleus at the geometric centre of the fibre) and nuclear internalisation (i.e. one or more nuclei anywhere inside the sarcoplasm) for CNM categorisation, and demonstrates how additional structural alterations within muscle fibres are a useful criterion for suggesting or discarding DNM2-, BIN1- or MTM1-related CNM. 20181480 2010
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 GeneticVariation disease BEFREE Our findings expand the phenotypical spectrum associated with DNM2 mutations and provide a new clinical indicator for involvement of this gene in patients with centronuclear myopathy. 19932620 2010
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 Biomarker disease BEFREE Necklace fibers were seen neither in DNM2- or BIN1-related CNM nor in males with classical XLMTM. 19084976 2009
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE Our results suggest that mutations in BIN1 cause centronuclear myopathy by interfering with remodeling of T tubules and/or endocytic membranes, and that the functional interaction between BIN1 and DNM2 is necessary for normal muscle function and positioning of nuclei. 17676042 2007
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 Biomarker disease BEFREE This report extends the clinical knowledge of DNM2-centronuclear myopathy and shows that the role of DNM2 mutations in the central nervous system should be further studied. 17825552 2007