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
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
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
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ et al.
Orphanet Journal of Rare Diseases, 2015
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).
Flex E et al.
Neuromuscular Disorders : Nmd, 2002
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