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.