Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the DNM2 gene cause autosomal dominant centronuclear myopathy (CNM) and a knock-in mouse model expressing the most frequent human DNM2 mutation in CNM (Knock In-Dnm2<sup>R465W/+</sup>) develops a myopathy sharing similarities with human disease.
|
30733559 |
2019 |
Myopathy
|
0.200 |
Biomarker
|
group |
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 |
Myopathy
|
0.200 |
AlteredExpression
|
group |
BEFREE |
We previously found that dynamin 2 (DNM2) is upregulated in both Mtm1 knockout and patient muscle samples, whereas its reduction through antisense oligonucleotides rescues the clinical and histopathological features of this myopathy in mice.
|
29506908 |
2018 |
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
The histopathological findings indicate the coexistence of typical axonal neuropathy and chronic myopathy in DNM2-related neuromuscular diseases.
|
28971531 |
2018 |
Myopathy
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Here we show that systemic delivery of Dnm2 antisense oligonucleotides (ASOs) into Mtm1KO mice efficiently reduces DNM2 protein level in muscle and prevents the myopathy from developing.
|
28589938 |
2017 |
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Nuclear centralisation and internalisation, sarcoplasmic radiating strands and type 1 muscle fibre predominance and hypotrophy characterise dynamin-2 (DNM2) associated centronuclear myopathy, whereas necklace fibres are typically seen in late onset myotubularin-1 (MTM1)-related myopathy.
|
25633151 |
2015 |
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The most severe form of the disease, X-linked centronuclear myopathy, is due to mutations in the gene encoding myotubularin (MTM1), while mutations in dynamin 2 (DNM2) and amphiphysin 2/BIN1 (AMPH2) cause milder forms of myopathy.
|
24569368 |
2014 |
Myopathy
|
0.200 |
Biomarker
|
group |
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 |
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
The findings broaden the features of DNM2-myopathy.
|
20817456 |
2010 |
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We identified two novel DNM2 mutations that cosegregated with purely axonal CMT in two pedigrees without clinical evidence of primary myopathy.
|
17636067 |
2007 |
Myopathy
|
0.200 |
Biomarker
|
group |
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 |
Myopathy
|
0.200 |
CausalMutation
|
group |
CLINVAR |
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|
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