X-linked myotubular myopathy in ambulant patients
X-linked myotubular myopathy (XLMTM) is a rare disease of skeletal muscle due to mutations in the MTM1 gene. Most patients have the severe generalized form and develop serious life-threatening complications at or shortly after birth. Long term survivors with severe XLMTM remain often non-ambulant and need ventilation support and assistance for normal daily activities. Less commonly patients develop a mild phenotype, sometimes even starting during adulthood. The disorder predominantly affects males but female carriers can also develop symptoms.
Source: Neuromuscular Disorders - Category: Neurology Authors: M. Annoussamy, V. Ch ë, C. Lilien, T. Gidaro, A. Daron, M. Mayer, J. Arnal, C. Wallgren-Pettersson, V. Biancalana, J. Laporte, J. Hogrel, D. Ramsdell, H. Landy, A. Buj-Bello, L. Servais Source Type: research