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Fascicolo 3-2017

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Original article

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

Frank Lehmann-Horn¹, Adele D’Amico², Enrico Bertini², Mauro LoMonaco³, Luciano Merlini⁴, Kevin R. Nelson⁵, Heike Philippi⁶, Gabriele Siciliano⁷, Frank Spaans⁸ and Karin Jurkat-Rott⁹

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

Annina S. Vischer^1,2, David J. Connolly³, Caroline J. Coats¹, Virginia Luis Fuentes³, William J. McKenna⁴, 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. Chrzanowski¹, Celine Baligand¹, Rebecca J. Willcocks², Jasjit Deol², Ilona Schmalfuss³, Donovan J. Lott², Michael J. Daniels⁴, Claudia Senesac², Glenn A. Walter¹ and Krista Vandenborne²

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

Angelica Bianco1¹, Luigi Bisceglia², Paolo Trerotoli³, Luciana Russo¹, Leonardo D’Agruma², Silvana Guerriero¹ and Vittoria Petruzzella¹

Case report

Bethlem myopathy in a Portuguese patient – case report

Ana Inês Martins¹, Cristina Marques², Jorge Pinto-Basto³ and Luis Negrão¹

Fascicolo 3-2017

Scarica il PDF del Fascicolo

Original article

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

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

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

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

Case report

Bethlem myopathy in a Portuguese patient – case report

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