Associated Papers
Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy.
Gerlach Melhedegaard E 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
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.
Reumers SFI et al.
Neurology, 2021
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.
Souza LS et al.
Neurology. Genetics, 2020
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Biancalana V et al.
Acta Neuropathologica, 2017
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
Oliveira J et al.
European Journal of Human Genetics : Ejhg, 2013
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
X-linked myotubular and centronuclear myopathies.
Pierson CR et al.
Journal of Neuropathology and Experimental Neurology, 2005
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
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).
Bertini E et al.
Neuromuscular Disorders : Nmd, 2004
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
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).
Flex E et al.
Neuromuscular Disorders : Nmd, 2002
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Herman GE et al.
Human Mutation, 2002
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
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
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