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 |
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 |
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 |
Centronuclear myopathy
|
0.900 |
Biomarker
|
disease |
BEFREE |
Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model.
|
30733559 |
2019 |
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 |
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 |
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 |
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 |
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 |
Centronuclear myopathy
|
0.900 |
Biomarker
|
disease |
BEFREE |
The <i>DNM2</i> gene was previously found to be mutated in Charcot-Marie-Tooth neuropathy-type CMT2M and centronuclear myopathy (CNM).
|
29670510 |
2018 |
Centronuclear myopathy
|
0.900 |
Biomarker
|
disease |
BEFREE |
A distal pattern of involvement was present in DNM2-CNM patients.
|
30232666 |
2018 |
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 |
Biomarker
|
disease |
BEFREE |
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.
|
28589938 |
2017 |
Centronuclear myopathy
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our data suggest that DNM2 modulation has potential as a therapeutic approach for patients with CNM and BIN1 defects.
|
29130937 |
2017 |
Centronuclear myopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Expression of dynamin-2 constructs carrying CNM-linked mutations disrupted the formation of new actin filaments as well as the stimulus-induced translocation of GLUT4 to the plasma membrane.
|
28676641 |
2017 |
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 |
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 |
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 |
Dynamin 2 mutations have previously been associated with other phenotypes including two forms of Charcot-Marie-Tooth neuropathy and centronuclear myopathy.
|
26517984 |
2015 |
Centronuclear myopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a patient suffering from cardiomyopathy and centronuclear myopathy with repetitive discharges and mild axonal neuropathy due to DNM2 mutation.
|
25492887 |
2015 |
Centronuclear myopathy
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our results demonstrate that CNM-Dyn2 mutants are gain-of-function mutations, and their primary effect in muscle is T-tubule disorganization, which explains the susceptibility of muscle to Dyn2 hyperactivity.
|
26199319 |
2015 |
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 |
Biomarker
|
disease |
BEFREE |
Dynamin 2 the rescue for centronuclear myopathy.
|
24569368 |
2014 |
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 |
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 |