Congenital myopathies – centronuclear myopathies

Myotubular and other centronuclear myopathies are congenital neuromuscular conditions characterised by the central location of the nucleus in muscle cells. The presumably most common form is the ultra-rare X-linked myotubular myopathy (XLMTM) with an estimated incidence of 1 in 50,000 male births. The Myotubular and Centronuclear Myopathy Patient Registry ("the registry") collects demographic, genetic and clinical data on affected individuals and female carriers of XLMTM from all over the world.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: J. Bullivant, B. Porter, L. Murphy, L. Render, M. Bellgard, A. Lennox, M. Spring, A. Hollander, C. B önnemann, H. Jungbluth, A. Buj-Bello, J. Dowling, C. Marini-Bettolo Source Type: research