|
Congenital Structural Myopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Skeletal muscle deficiency in the 3-phosphoinositide (PtdInsP) phosphatase myotubularin (MTM1) causes myotubular myopathy which is associated with severe depression of voltage-activated sarcoplasmic reticulum Ca<sup>2+</sup> release through ryanodine receptors.
|
30999217 |
2019 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the phosphoinositide 3-phosphatase myotubularin (MTM1) are responsible for X-linked CNM (XLCNM), also called myotubular myopathy, whereas mutations in the membrane remodeling Bin/amphiphysin/Rvs protein amphiphysin 2 [bridging integrator 1 (BIN1)] are responsible for an autosomal form of the disease.
|
30894500 |
2019 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Based on the results of genetic analysis, these seven patients were classified as (1) X-linked recessive myotubular myopathy (patients 1-3) with MTM1 mutations and mild phenotype, (2) the autosomal dominant CNM (patients 4-6) with DNM2 mutations, and (3) the autosomal recessive CNM (patient 7) with RYR1 mutations.
|
30232666 |
2018 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the myotubularin (MTM1) gene cause myotubular myopathy, and no specific curative treatment is available.
|
29506908 |
2018 |
|
Congenital Structural Myopathy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We recently demonstrated the therapeutic efficacy of intravenous delivery of rAAV vectors expressing MTM1 in animal models of myotubular myopathy.
|
29408998 |
2018 |
|
Congenital Structural Myopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Moreover, adeno-associated virus-mediated exogenous expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy.
|
28934386 |
2017 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we report that surface delivery of endosomal cargo requires hydrolysis of PI(3)P by the phosphatidylinositol 3-phosphatase MTM1, an enzyme whose loss of function leads to X-linked centronuclear myopathy (also called myotubular myopathy) in humans.
|
26760201 |
2016 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
An autosomal dominant form of CNM results from mutations in the gene encoding dynamin 2 (DNM2), and loss-of-function mutations in the gene encoding myotubularin (MTM1) result in X-linked CNM (XLCNM, also called myotubular myopathy), which promotes severe neonatal hypotonia and early death.
|
24569376 |
2014 |
|
Congenital Structural Myopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
This finding suggests that at least some unresolved cases of myotubular myopathy are due to duplications in MTM1, and that array-CGH should be considered when MTM1 sequencing is unrevealing.
|
23273872 |
2013 |
|
Congenital Structural Myopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
This work highlights an important physiological function of catalytically inactive phosphatases in the pathophysiology of myotubular myopathy and suggests a novel therapeutic approach through identification of drugs that could stabilize the myotubularin-MTMR12 complex and hence ameliorate this disorder.
|
23818870 |
2013 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular myopathy).
|
23071445 |
2012 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis.
|
21881007 |
2012 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
|
22068590 |
2012 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
X-linked recessive myotubular myopathy is a severe congenital myopathy due to mutations in the MTM1 gene encoding myotubularin.
|
22258523 |
2012 |
|
Congenital Structural Myopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Finally, we identify abnormalities in the tubulo-reticular network in muscle from myotubularin zebrafish morphants and correlate these changes with abnormalities in T-tubule organization in biopsies from patients with myotubular myopathy.
|
19197364 |
2009 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
[Myotubular myopathy. Case report and review of the literature].
|
17827085 |
2007 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The severe neonatal X-linked form (myotubular myopathy) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), whereas mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases.
|
17676042 |
2007 |
|
Congenital Structural Myopathy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
|
17376685 |
2007 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in several myotubularin genes lead to myotubular myopathy and Charcot-Marie-Tooth peripheral neuropathy.
|
16828287 |
2006 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
|
15725586 |
2005 |
|
Congenital Structural Myopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
These data demonstrate for the first time a role for MTM1 in the production of PtdIns(5)P in mammalian cells, suggesting that the lack of transformation of phosphatidylinositol 3,5-bisphosphate into PtdIns(5)P might be an important component in the etiology of myotubular myopathy.
|
14660569 |
2004 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This case emphasizes that investigation of the MTM1 gene and X-inactivation studies are indicated in isolated females with histopathological and clinical findings suggestive of myotubular myopathy.
|
12467733 |
2003 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in members of the myotubularin family cause the human neuromuscular disorders myotubular myopathy and type 4B Charcot-Marie-Tooth syndrome.
|
14690594 |
2003 |
|
Congenital Structural Myopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Myotubularin, the gene mutated in myotubular myopathy, functions as a lipid phosphatase with specificity for PtdIns(3)P. It is now apparent that there is an increasing family of proteins that are defined by their significant homology with myotubularin.
|
12018406 |
2002 |
|
Congenital Structural Myopathy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
|
11793470 |
2002 |