Myotubular myopathy

Hepatobiliary involvement, such as gallstones or peliosis hepatis, has been reported in several cases of myotubular myopathy since the 1990s. It was found in 7% of participants in the Recensus study or the natural  history study NatHis-MTM.  With the death from severe hepatic insufficiency of three participants in the ASPIRO trial receiving the highest dose … [Read more]

X-linked myotubular myopathy (MTM) is an extremely rare neuromuscular disease belonging to the very heterogeneous group of congenital myopathies. Revealed at birth, even in utero, it is extremely severe with premature mortality. It results in a major hypotonia with respiratory attack, the whole quickly putting into play the vital prognosis. The causal gene MTM1 codes … [Read more]