Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort.

Background And Objective: X-linked myotubular myopathy (XL-MTM) is an early-onset congenital myopathy characterized by mild to severe muscle weakness in male individuals. The objective was to characterize the clinical spectrum of neuromuscular features in X-linked myotubular myopathy (XL-MTM) carriers.

Methods: We performed a nationwide cross-sectional study focusing on neuromuscular features in an unselected cohort of Dutch XL-MTM carriers.