|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Earlier studies have showing the rescue of MTM1 myopathy by MTMR2 overexpression, emphasize the importance of maintaining the phosphoinositides equilibrium and highlight a potential compensatory mechanism amongst members of this pathway.
|
31680794 |
2019 |
|
Myopathy
|
0.200 |
Biomarker
|
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 |
GeneticVariation
|
group |
BEFREE |
By combining next generation sequencing (NGS) and CGH array approaches, we have investigated the role of MTM1 variants in a large cohort of undiagnosed patients with a wide spectrum of myopathies.
|
27017278 |
2017 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A muscle biopsy from the grandfather revealed occasional typical necklace fibers with internalized nucleus, which is typically found in MTM1-associated myopathies.
|
28622964 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
|
28934386 |
2017 |
|
Myopathy
|
0.200 |
CausalMutation
|
group |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
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 |
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 |
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 |
GeneticVariation
|
group |
BEFREE |
Whole-exome or -genome sequencing was performed in a cohort of 29 unrelated patients with clinicopathologic diagnoses of CNM or related myopathy depleted for cases with mutations of MTM1, DNM2, and BIN1.
|
23975875 |
2013 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
|
22101172 |
2012 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Our findings confirm the necklace fibers can be a histopathological finding of MTM1 myopathies, even in the severe neonatal form, and suggest that the necklace fibers appear or increase in number over time.
|
22264517 |
2012 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
We show that the myotubularin (mtm) phosphoinositide phosphatase is required for integrin-mediated myofiber attachments in Drosophila melanogaster, and that mtm-depleted myofibers exhibit hallmarks of human XLMTM myopathy.
|
21347281 |
2011 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations.
|
15883335 |
2005 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
MTM1, the gene encoding myotubularin (MTM1), is mutated in the X-linked myotubular myopathy (XLMTM), a severe genetic muscular disorder.
|
14660569 |
2004 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
X-linked myotubular myopathy (XLMTM; OMIM# 310400) is a severe congenital muscle disease caused by mutations in the myotubularin (MTM1) gene.
|
12031625 |
2002 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.
|
9858861 |
1999 |