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

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

Background: X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the <i>MTM1</i> gene. XLMTM has a high neonatal and infantile mortality rate due to a severe myopathic phenotype and respiratory failure. Howev...

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Bibliographic Details
Main Authors: Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René G. Feichtinger, Johannes A. Mayr, Martina Škopková, Daniela Gašperíková, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Genes
Subjects:
<i>MTM1</i> gene
myotubularin
X-linked myotubular myopathy
centronuclear myopathy
genotype–phenotype correlations
DeepGestalt technology
Online Access:https://www.mdpi.com/2073-4425/14/12/2174

Internet

https://www.mdpi.com/2073-4425/14/12/2174

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