Article
X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.
Journal of neurology - 28 Apr 2026
Elkoush A, Giossi R, Gadaleta G, Maccabeo A, Pinna F, Palladino A, Giannotta M, Leone D, Colacicco G, Risi B, Gibertini S, Verriello L, Panicucci C, Bruno C, Pane M, Messina S, Rodolico C, Pini A, Vattemi G, Filosto M, Padovani A, Sansone V A, Carella M C, Forleo C, Tonin P, Fiorillo C, Politano L, Carboni N, Mongini T, Maggi L
Abstract excerpt
BACKGROUND AND OBJECTIVES: X-linked Emery-Dreifuss muscular dystrophy (EDMD1) is a rare early-onset myopathy, affecting 1/400.000 individuals, characterized by humeroperoneal weakness, contractures and cardiac involvement. EDMD1 natural history has been poorly investigated, with most of the studies including only a few patients. The aim of the study was to investigate the clinical and molecular features in a...
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