Associated Papers
Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy.
Moschovaki-Filippidou F et al.
Jci Insight, 2025
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
38136996 (PubMed )
Supplement: genes-14-02174-s001.zip › Supplementary_table_proofreading.xlsx › Cohort_by_one
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
30047259 (PubMed )
Supplement: MGG3-6-722-s002.xlsx › Helices_and_beta_sheets_clinvar
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.
Ravenscroft G et al.
Brain : a Journal of Neurology, 2015
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
Amoasii L et al.
Plos Genetics, 2012
Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate.
Razidlo GL et al.
The Journal of Biological Chemistry, 2011
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.
Tosch V et al.
Neuromuscular Disorders : Nmd, 2010
Gene symbol: MTM1. Disease: Myotubular myopathy.
Mueller OT et al.
Human Genetics, 2008
Gene symbol: MTM1. Disease: Myotubular myopathy?
Mueller OT et al.
Human Genetics, 2008
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells.
Tronchère H et al.
The Journal of Biological Chemistry, 2004
Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.
Begley MJ et al.
Molecular Cell, 2003
Diagnosis of X-linked myotubular myopathy by detection of myotubularin.
Laporte J et al.
Annals of Neurology, 2001
MTM1 mutations in X-linked myotubular myopathy.
Laporte J et al.
Human Mutation, 2000
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