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
The implementation and utility of clinical exome sequencing in a South African infant cohort.
Campbell L et al.
Frontiers in Genetics, 2023
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.
D'Amico A et al.
Orphanet Journal of Rare Diseases, 2021
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
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.
Gurgel-Giannetti J et al.
Neuromuscular Disorders : Nmd, 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
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
MTM1 mutations in X-linked myotubular myopathy.
Laporte J et al.
Human Mutation, 2000
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