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VMA21-X-linked myopathy in Peru: characterization of three families

Martínez-Esteban P, Sotelo-Muñoz M, Severa G, Cortez-Salazar L, Cassandrini D, Urtizberea JA, et al. VMA21-X-linked myopathy in Peru: characterization of three families. Neuromuscul Disord. 48. doi: https://doi.org/10.1016/j.nmd.2025.105311 Abstract VMA21-X-Linked related myopathy is a rare neuromuscular disease characterized by a wide phenotypic spectrum ranging from neonatal forms with severe muscular weakness and respiratory failure, to mild […]

Clinical practice guidelines for the diagnosis and management of Duchenne muscular dystrophy: a scop...

Malaga M, Rodriguez-Calienes A, Chavez-Ecos FA, Huerta-Rosario A, Alvarado-Gamarra G, Cabanillas-Lazo M, et al. Front Neurol. 2024;14:1260610. doi: 10.3389/fneur.2023.1260610 Introduction Our objective was to identify recent CPGs for the diagnosis and management of DMD and summarize their characteristics and reliability. Methods We conducted a scoping review of CPGs using MEDLINE, the Turning Research Into Practice […]