Article
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.
Genes - 3 Dec 2023
Kušíková Katarína, Šoltýsová Andrea, Ficek Andrej, Feichtinger René G, Mayr Johannes A, Škopková Martina, Gašperíková Daniela, Kolníková Miriam, Ornig Karoline, Kalev Ognian, Weis Serge, Weis Denisa
Abstract excerpt
BACKGROUND: X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the MTM1 gene. XLMTM has a high neonatal and infantile mortality rate due to a severe myopathic phenotype and respiratory failure. However, in a minority of XLMTM cases, patients present with milder phenotypes and achieve ambulation and adulthood. Notable facial...
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