Associated Papers
Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy.
Gerlach Melhedegaard E et al.
Jci Insight, 2025
Identification of a novel MTM1 pathogenic variant in neonatal X-linked centronuclear myopathy: a case report from East Asia.
Xiong W et al.
Acta Neurologica Belgica, 2025
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
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
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Olde Keizer RACM et al.
European Journal of Pediatrics, 2023
36997769 (PubMed )
Supplement: 431_2023_4909_MOESM4_ESM.xlsx › Supplementary_T3
X-linked recessive myotubular myopathy with MTM1 mutations.
Han YM et al.
Korean Journal of Pediatrics, 2013
X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.
Jeon JH et al.
Yonsei Medical Journal, 2011
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
Tsai TC et al.
Neuromuscular Disorders : Nmd, 2005
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
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Herman GE et al.
Human Mutation, 2002
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