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
Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review.
Jin N et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2023
Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association?
de Carvalho Nunes G et al.
Neuromuscular Disorders : Nmd, 2022
Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.
Gangfuss A et al.
Journal of Neuromuscular Diseases, 2021
Extensive morphological and immunohistochemical characterization in myotubular myopathy.
Shichiji M et al.
Brain and Behavior, 2013
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
Oliveira J et al.
European Journal of Human Genetics : Ejhg, 2013
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