DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: Centronuclear myopathy ×
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 CLINVAR
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 Biomarker disease MGD
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 CausalMutation disease CLINVAR
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 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 X-linked myotubular (centronuclear) myopathy is a severe congenital myopathy caused by mutations in a phosphatidylinositol 3-phosphate (PtdIns3P) phosphatase called myotubularin, and mutations in dominant centronuclear myopathy (CNM) cases were identified in the dynamin 2 gene. 17008356 2006
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease 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: 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 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
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 Biomarker disease GENOMICS_ENGLAND 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 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
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 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 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 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 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 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 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 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 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 Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. 22396310 2012