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
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.
D'Amico A et al.
Orphanet Journal of Rare Diseases, 2021
Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.
Gangfuss A et al.
Journal of Neuromuscular Diseases, 2021
X-linked myotubular myopathy: A prospective international natural history study.
Annoussamy M et al.
Neurology, 2019
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
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
Select a paper to view details