Article

Prognostic Value of Genotype-Phenotype Correlations in X-linked Myotubular Myopathy and Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool

2023-11-14

Abstract excerpt

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. Regarding wide phenotypic variabilit...

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Literature Corpus work: 6e75dbf6-f08a-5b6d-b995-cf6867429c98
DOI: 10.20944/preprints202311.0870.v1

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