Associated Papers
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.
Colombo S et al.
Journal of Neuromuscular Diseases, 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
X-linked myotubular myopathy: A prospective international natural history study.
Annoussamy M et al.
Neurology, 2019
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
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
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
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
X-linked myotubular myopathy in a family with three adult survivors.
Yu S et al.
Clinical Genetics, 2003
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
Biancalana V et al.
Human Genetics, 2003
MTM1 mutations in X-linked myotubular myopathy.
Laporte J et al.
Human Mutation, 2000
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
Buj-Bello A et al.
Human Mutation, 1999
Select a paper to view details