MTM1-related myopathy carrier females manifest significant skeletal asymmetries and a spectrum of muscle involvement

X-linked myotubular myopathy (XLMTM) results from mutations in MTM1 and manifests in males with severe congenital hypotonia, weakness and respiratory insufficiency. Carrier females are less well-characterized, with reports indicating a spectrum of disease, ranging from mild facial weakness to severe congenital weakness. We deeply phenotyped a cohort of ten females with causative mutations in MTM1, evaluating the severity of disease expression based on muscle weakness, pulmonary function (spirometry and dynamic breathing MRI), muscle imaging (ultrasound and MRI) and skeletal morphology.

Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: A. Reghan Foley, B. Cocanougher, L. Flynn, P. Yun, M. Jain, M. Waite, R. Vasavada, S. de Chastonay, S. Donkervoort, C. Bonnemann Source Type: research