Hippokratia 2011; 15 (3): 278-279
L. Fidani, P. Karagianni, C. Tsakalidis, G. Mitsiako, I. Hatziioannidis, V. Biancalana, N. Nikolaidis
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy, usually characterized by severe hypotonia and respiratory insufficiency at birth, in affected, male infants. The disease is causally associated with mutations in the MTM1 gene, coding for phosphatase myotubularin. We report a severe case of XLMTM with a novel mutation, at a donor splicing site (c.1467+1G) previously associated with severe phenotype. The mutation was also identified in the patient's mother, providing an opportunity for sound genetic counseling.