Associated Papers
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.
Colombo S et al.
Journal of Neuromuscular Diseases, 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
X-linked myotubular myopathy: A prospective international natural history study.
Annoussamy M et al.
Neurology, 2019
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.
Penon M et al.
Molecular Genetics & Genomic Medicine, 2018
30047259 (PubMed )
Supplement: MGG3-6-722-s002.xlsx › Helices_and_beta_sheets_clinvar
Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.
Rodríguez Cruz PM et al.
Neuromuscular Disorders : Nmd, 2014
Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM et al.
Current Opinion in Neurology, 2014
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.
Robb SA et al.
Neuromuscular Disorders : Nmd, 2011
MTM1 mutations in X-linked myotubular myopathy.
Laporte J et al.
Human Mutation, 2000
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