Associated Papers
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
Kušíková K et al.
Genes, 2023
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.
Penon M et al.
Molecular Genetics & Genomic Medicine, 2018
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Raess MA et al.
Human Molecular Genetics, 2017
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Gupta VA et al.
Plos Genetics, 2013
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Pierson CR et al.
Human Molecular Genetics, 2012
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
Amoasii L et al.
Plos Genetics, 2012
Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes.
Cao C et al.
Traffic (copenhagen, Denmark), 2007
Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction.
Tsujita K et al.
The Journal of Biological Chemistry, 2004
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Herman GE et al.
Human Mutation, 2002
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