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.

Katarína KušíkováAndrea ŠoltýsováAndrej FicekRené Günther Feichtinger Johannes Adalbert Mayr Martina Škopková Daniela GasperikovaMiriam KolníkováKaroline OrnigOgnian KalevSerge Weis Denisa Weis

Published in: Genes (2023)

Using genotype-phenotype correlations could predict the disease course in most XLMTM patients, but still with limitations. The Face2Gene application seems to be a practical, non-invasive diagnostic approach in XLMTM using the correct algorithm.

Keyphrases

end stage renal disease
ejection fraction
copy number
chronic kidney disease
newly diagnosed
machine learning
prognostic factors
peritoneal dialysis
late onset
deep learning
genome wide identification
gene expression
genome wide analysis