|
X-linked centronuclear myopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
These distinct pathological features among the patients with variants in the second cluster of PTP domain in MTM1 provides an insight into microheterogeneities in disease phenotypes in XLMTM.
|
30884204 |
2019 |
|
X-linked centronuclear myopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we tested whether the closest homologues of MTM1, MTMR1, and MTMR2 (the latter being implicated in Charcot-Marie-Tooth neuropathy type 4B1) are functionally redundant and could represent a therapeutic target for XLMTM.
|
29408998 |
2018 |
|
X-linked centronuclear myopathy
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.
|
30232666 |
2018 |
|
X-linked centronuclear myopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers.
|
29567349 |
2018 |
|
X-linked centronuclear myopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition caused by mutations in the MTM1 gene.
|
30241883 |
2018 |
|
X-linked centronuclear myopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked myotubular myopathy (XLMTM, also known as XLCNM) is a severe congenital muscular disorder due to mutations in the myotubularin gene, MTM1.
|
30451843 |
2018 |
|
X-linked centronuclear myopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
MTM1-X-linked myotubular myopathy is a condition that leads to male perinatal respiratory failure and a high risk for early mortality.
|
30047259 |
2018 |
|
X-linked centronuclear myopathy
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Mutations in the MTM1 gene cause X-linked myotubular myopathy (XLMTM), characterized by neonatal hypotonia and respiratory failure, and are responsible for a premature mortality in affected males.
|
27017278 |
2017 |
|
X-linked centronuclear myopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
|
28007904 |
2017 |
|
X-linked centronuclear myopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in MTM1 cause the severe congenital myopathy called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth peripheral neuropathy.
|
28934386 |
2017 |
|
X-linked centronuclear myopathy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
A recombinant adeno-associated virus serotype 8 (rAAV8) vector expressing canine myotubularin (cMTM1) under the muscle-specific desmin promoter (rAAV8-cMTM1) was administered by simple peripheral venous infusion in XLMTM dogs at 10 weeks of age, when signs of the disease are already present.
|
28237839 |
2017 |
|
X-linked centronuclear myopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MTM1 gene cause X-linked myotubular myopathy (XLMTM), characterized by neonatal hypotonia and respiratory failure, and are responsible for a premature mortality in affected males.
|
27017278 |
2017 |
|
X-linked centronuclear myopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
AAV-mediated gene transfer of MTM1 in young XLMTM dogs results in long-term expression of myotubularin transgene with normal muscular performance and neurological function in the absence of muscle pathology.
|
28370029 |
2017 |
|
X-linked centronuclear myopathy
|
0.800 |
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 |
|
X-linked centronuclear myopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
X-linked centronuclear myopathy
|
0.800 |
Biomarker
|
disease |
CLINGEN |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
X-linked centronuclear myopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis.
|
26338224 |
2016 |
|
X-linked centronuclear myopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
|
25957634 |
2015 |
|
X-linked centronuclear myopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Similarly, single-dose intravascular delivery of a canine AAV8-MTM1 vector in XLMTM dogs markedly improved severe muscle weakness and respiratory impairment, and prolonged life span to more than 1 year in the absence of toxicity or a humoral or cell-mediated immune response.
|
24452262 |
2014 |
|
X-linked centronuclear myopathy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 proteins result in reduction of both myotubularin and MTMR12.
|
23818870 |
2013 |
|
X-linked centronuclear myopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1.
|
23818870 |
2013 |
|
X-linked centronuclear myopathy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
These promising findings suggest that even low levels of myotubularin protein replacement can improve the muscle weakness and reverse the pathology that characterizes XLMTM.
|
23307925 |
2013 |
|
X-linked centronuclear myopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid phosphatase, myotubularin.
|
22068590 |
2012 |
|
X-linked centronuclear myopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Predisposition to subdural hemorrhage in X-linked myotubular myopathy.
|
22520358 |
2012 |
|
X-linked centronuclear myopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked myotubular myopathy due to mutations in the MTM1 gene is classically characterized by a severe neonatal phenotype and a typical muscle biopsy presenting globular and centrally located nuclei in muscle myofibers.
|
22264517 |
2012 |