Myotubular myopathy

RSS feed

Myotubular myopathy and peliosis hepatitis: a non incidental association

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]