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
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Biancalana V et al.
Acta Neuropathologica, 2017
Extensive morphological and immunohistochemical characterization in myotubular myopathy.
Shichiji M et al.
Brain and Behavior, 2013
[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male].
Drouet A et al.
Revue Neurologique, 2008
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Herman GE et al.
Human Mutation, 2002
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M et al.
Neuromuscular Disorders : Nmd, 0
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