Associated Papers
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
Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
Hedberg C et al.
Neuromuscular Disorders : Nmd, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
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
[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
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.
Sutton IJ et al.
Neurology, 2001
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
Select a paper to view details