×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
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
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
25957634
2015
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
Predisposition to subdural hemorrhage in X-linked myotubular myopathy.
22520358
2012
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.
20500434
2011
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
Mutation studies in X-linked myotubular myopathy in three Indian families.
20358311
2010
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
GeneticVariation
CLINVAR
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.
20434914
2010
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
"""Necklace"" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy."
19084976
2009
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization.
17973976
2008
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1 .
17005396
2006
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
GeneticVariation
CLINVAR
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
11793470
2002
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
GeneticVariation
CLINVAR
X-linked myotubular myopathy (XLMTM; OMIM# 310400) is a severe congenital muscle disease caused by mutations in the myotubularin (MTM1 ) gene.
12031625
2002
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.
12118066
2002
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.
11552027
2001
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
The heterogeneity of the mutations, their mutational origins, and the varied ethnic backgrounds of the patients, indicate that the majority of XLMTM families are affected by unique MTM1 mutations.
10063835
1999
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
GeneticVariation
CLINVAR
The heterogeneity of the mutations, their mutational origins, and the varied ethnic backgrounds of the patients, indicate that the majority of XLMTM families are affected by unique MTM1 mutations.
10063835
1999
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
GeneticVariation
CLINVAR
X-linked myotubular myopathy was found to be associated with mutations in the MTM1 gene in Xq28 encoding the putative tyrosine phosphatase, myotubularin .
9829274
1998
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
GeneticVariation
CLINVAR
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy . ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.
9305655
1997
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy . ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.
9305655
1997
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
X-linked centronuclear myopathy
0.800
CausalMutation
CLINVAR
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy .
9285787
1997
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
Centronuclear myopathy
0.700
CausalMutation
CLINVAR
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
Myopathy
0.200
CausalMutation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
Seizures
0.110
Biomarker
HPO
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
Generalized muscle weakness
0.110
Biomarker
HPO
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
Neonatal Hypotonia
0.110
CausalMutation
CLINVAR