|
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.
|
22613877 |
2012 |
|
Centronuclear myopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To date, five different CNM-related DNM2 mutations have been observed in China.
|
25501959 |
2015 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |