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
38136996 (PubMed )
Supplement: genes-14-02174-s001.zip › Supplementary_table_proofreading.xlsx › Cohort_by_one
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis.
Longo G et al.
Clinical Genetics, 2016
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F et al.
Journal of Neurology, 2015
Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
Hedberg C et al.
Neuromuscular Disorders : Nmd, 2012
[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male].
Drouet A et al.
Revue Neurologique, 2008
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
MTM1 mutations in X-linked myotubular myopathy.
Laporte J et al.
Human Mutation, 2000
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M et al.
Neuromuscular Disorders : Nmd, 0
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