Volume XLII, n. 4 - December 2023 | Acta Myologica

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Volume XLII, n. 4 - December 2023

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Original articles

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation

Ikhlass Belhassen, Rita Menassa, Salma Sakka, Laurence Michel-Calemard, Nathalie Streichenberger, Dorra Ben Ayed, Nadia Bouattour, Mariem Dammak, Chokri Mhiri
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature

Sara Massucco, Chiara Gemelli, Emilia Bellone, Alessandro Geroldi, Serena Patrone, Paola Mandich, Elena Scarsi, Elena Faedo, Lucio Marinelli, Tiziana Mongini, Monica Traverso, Serena Baratto, Angelo Schenone, Chiara Fiorillo, Marina Grandis
Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience

Carlotta Spagnoli, Rachele Adorisio, Luca Bello, Adele D'Amico, Maria Grazia D’Angelo, Marika Pane, Martina Penzo, Pietro Riguzzi, Valeria Sansone, Andrea Vianello, Carlo Fusco

Reviews

Long-read sequencing improves diagnostic rate in neuromuscular disorders

Rafaela Owusu, Marco Savarese

Rapid Reports

Efficacy of N-163 beta-glucan in beneficially improving biomarkers of relevance to muscle function in patients with muscular dystrophies in a pilot clinical study

Kadalraja Raghavan, Thanasekar Sivakumar, Koji Ichiyama, Naoki Yamamoto, Mangaleswaran Balamurugan, Vidyasagar Devaprasad Dedeepiya, Rajappa Senthilkumar, Senthilkumar Preethy, Samuel JK Abraham

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