|
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 |
|
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 |
|
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 |
|
Centronuclear myopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
|
20858595 |
2010 |
|
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 |
|
Centronuclear myopathy
|
0.900 |
Biomarker
|
disease |
BEFREE |
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
|
20227276 |
2010 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Centronuclear myopathy
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
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 |
|
Centronuclear myopathy
|
0.900 |
Biomarker
|
disease |
BEFREE |
Dynamin 2 the rescue for centronuclear myopathy.
|
24569368 |
2014 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Centronuclear myopathy
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
|
Centronuclear myopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.
|
22613877 |
2012 |
|
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 |
|
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 |