A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report

Abstract Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on male patient from Neonatal Intensive Care Unit, who presented of myopathy. After eliminating many other possible causes, he was eventually proven to bear c.197C>G, p.(Thr66Arg) MTM1 mutation, variant uncertain significance, never described in the literature before. Family underwent same genetic tests that proved mother be carrier mutation. Conclusion article first report abovementioned, newly discovered mutation gene, with high probability leading centronuclear phenotype. It also summarizes diagnostic process current state knowledge about therapy prognosis for children XLMTM. authors hope findings will contribute subsequent patients.