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 › MISSENSE_prediction
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
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).
Flex E et al.
Neuromuscular Disorders : Nmd, 2002
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Herman GE et al.
Human Mutation, 2002
Diagnosis of X-linked myotubular myopathy by detection of myotubularin.
Laporte J et al.
Annals of Neurology, 2001
MTM1 mutations in X-linked myotubular myopathy.
Laporte J et al.
Human Mutation, 2000
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