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Volume 43(1);  2024

Original Articles

Fatigue in Spinal Muscular Atrophy: a fundamental open issue
Oscar Crisafulli, Angela Berardinelli, Giuseppe D’Antona
Acta Myol. 2024; 43(1): 1–7. Published online 2024 Mar 31. doi: 10.36185/2532-1900-402
PMCID:
PMC10997038
Article PDF–140K
Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study
Amir Dori, Marianna Scutifero, Luigia Passamano, Dario Zoppi, Lucia Ruggiero, Antonio Trabacca, Luisa Politano
Acta Myol. 2024; 43(1): 8–15. Published online 2024 Feb 21. doi: 10.36185/2532-1900-398
PMCID:
PMC10997039
Article PDF–232K

Review

Assessment of the quality of life in patients with LGMD. The case of transportinopathy
Corrado Angelini, Alicia Aurora Rodríguez
Acta Myol. 2024; 43(1): 16–20. Published online 2024 Feb 27. doi: 10.36185/2532-1900-397
PMCID:
PMC10997037
Article PDF–110K

Case Report

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype
Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Acta Myol. 2024; 43(1): 21–26. Published online 2024 Feb 21. doi: 10.36185/2532-1900-411
PMCID:
PMC10997040
Article PDF–392K
Articles from Acta Myologica are provided here courtesy of Pacini Editore