Congenital myopathies – centronuclear myopathies

The mode of inheritance of X-linked myotubular myopathy (XL-MTM) is currently considered recessive and the proportion of manifesting carriers is assumed low. We aimed to characterize the spectrum of clinical signs and symptoms in a cohort of female XL-MTM carriers, including prevalence, genetic features and associated disease burden. We performed a cross-sectional online questionnaire study among XL-MTM carriers, recruiting from patient associations, medical centres and registries in the United Kingdom, Germany and the Netherlands.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: F. Braun, S. Reumers, J. Spillane, J. Bohm, M. Pennings, M. Schouten, A. van der Kooi, A. Foley, C. B önnemann, E. Kamsteeg, C. Erasmus, U. Schara-Schmidt, H. Jungbluth, N. Voermans Source Type: research