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 FeichtingerJohannes Adalbert MayrMartina ŠkopkováDaniela GasperikovaMiriam KolníkováKaroline OrnigOgnian KalevSerge WeisDenisa WeisPublished 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
- newly diagnosed
- copy number
- ejection fraction
- genome wide
- machine learning
- prognostic factors
- deep learning
- peritoneal dialysis
- genome wide identification
- late onset
- dna methylation
- gene expression
- transcription factor
- early onset
- muscular dystrophy
- duchenne muscular dystrophy
- neural network
- genome wide analysis