Article
A Cross-Sectional Study of Nemaline Myopathy.
Neurology - 9 Mar 2021
Amburgey Kimberly, Acker Meryl, Saeed Samia, Amin Reshma, Beggs Alan H, Bönnemann Carsten G, Brudno Michael, Constantinescu Andrei, Dastgir Jahannaz, Diallo Mamadou, Genetti Casie A, Glueck Michael, Hewson Stacy, Hum Courtney, Jain Minal S, Lawlor Michael W, Meyer Oscar H, Nelson Leslie, Sultanum Nicole, Syed Faiza, Tran Tuyen, Wang Ching H, Dowling James J
Abstract excerpt
OBJECTIVE: Nemaline myopathy (NM) is a rare neuromuscular condition with clinical and genetic heterogeneity. To establish disease natural history, we performed a cross-sectional study of NM, complemented by longitudinal assessment and exploration of pilot outcome measures. METHODS: Fifty-seven individuals with NM were recruited at 2 family workshops, including 16 examined at both time points. Participants were...
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