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Home Archive Fascicolo 3-2017

Fascicolo 3-2017

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Original article

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life

Frank Lehmann-Horn 1, Adele D’Amico 2, Enrico Bertini 2, Mauro LoMonaco 3, Luciano Merlini 4, Kevin R. Nelson 5, Heike Philippi 6, Gabriele Siciliano 7, Frank Spaans 8 and Karin Jurkat-Rott 9

Arrhythmogenic right ventricular cardiomyopathy in Boxer dogs: the diagnosis as a link to the human disease

Annina S. Vischer 1,2, David J. Connolly 3, Caroline J. Coats 1, Virginia Luis Fuentes 3, William J. McKenna 4, Silvia Castelletti1 1,5 and Antonios A. Pantazis 1,6

Multi-slice MRI reveals heterogeneity in disease distribution along the length of muscle in Duchenne muscular dystrophy

Stephen M. Chrzanowski 1, Celine Baligand 1, Rebecca J. Willcocks 2, Jasjit Deol 2, Ilona Schmalfuss 3, Donovan J. Lott 2, Michael J. Daniels 4, Claudia Senesac 2, Glenn A. Walter 1 and Krista Vandenborne 2

Leber’s hereditary optic neuropathy (LHON) in an Apulian cohort of subjects

Angelica Bianco1 1, Luigi Bisceglia 2, Paolo Trerotoli 3, Luciana Russo 1, Leonardo D’Agruma 2, Silvana Guerriero 1 and Vittoria Petruzzella 1

Case report

Bethlem myopathy in a Portuguese patient – case report

Ana Inês Martins 1, Cristina Marques 2, Jorge Pinto-Basto 3 and Luis Negrão 1

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PROCEEDINGS OF THE XXI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY

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Digital Edition December 01-04, 2021

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