Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort.
Daniëlle K FrankenKarlijn BoumanStacha F I ReumersFrederik BraunJennifer SpillaneMaartje PenningsSaskia L S HouwenCorrie E ErasmusUlrike Schara-SchmidtErik-Jan KamsteegHeinz JungbluthNicol C VoermansPublished in: Neurology (2022)
This study showed that 52% of an unselected group of XL-MTM carriers has muscle weakness (3 of whom were previously unclassified as manifesting). This corresponds to findings of our recent questionnaire study on self-reported symptoms in XL-MTM carriers. These observations should raise awareness of the neuromuscular manifestations of the XL-MTM carrier state and provide important epidemiologic information required for future clinical trials.