PROCEEDINGS OF THE XIX CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY

Clinicopathologic features in a case of intermuscular myopericitoma of thigh

MIRSAD HODZIC,NERMINA PIRIC,RENATA HODZIC,ZINAIDA KARASALIHOVIC

Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results

ALBERTO PALLADINO,ANDREA A. PAPA,ANNA RAGO,CHIARA ORSINI,GERARDO NIGRO,LUISA POLITANO,MANUELA ERGOLI,SALVATORE MORRA,VINCENZO RUSSO

Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report

MA SALIH,MAHMOUD KOKO,MOHAMED OSAMA MIRGAHNI IBRAHIM,MUNTASER IBRAHIM,MUTAZ AMIN,OSHEIK A SEIDI,YOUSUF BAKHIT

Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III

FRANCESCO FRANCINI-PESENTI,NICOLA VITTURI,SILVIA TRESSO

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies

ALBERTO PALLADINO,ANDREA ANTONIO PAPA,ANNALAURA TORELLA,ANTONIO NOVELLI,CHIARA ORSINI,LUIGIA PASSAMANO,LUISA POLITANO,MANUELA ERGOLI,PAOLA D’AMBROSIO,ROBERTA PETILLO,VINCENZO NIGRO

Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine

CONSTANTINOS PAPADOPOULOS,GEORGE KONSTANTINOS PAPADIMAS,VASILIKI ZOUVELOU

Subacute inflammatory myopathy associated with papillary cancer of the thyroid gland

ADRIANA LAGES,ANA INêS MARTINS,LUíS NEGR？O,OLINDA REBELO

An unusual presentation of scleromyxedema as inflammatory myopathy

KAVADISSERIL VIVEKANANDAN VYSAKHA,MURALIDHARAN NAIR,RAJALAKSHMI POYURAN,SRUTHI S NAIR

Novel TRIM32 mutation in sarcotubular myopathy

ALBERTO TAGLIAFICO,CARLO MINETTI,CHIARA FIORILLO,CHIARA GEMELLI,CHIARA PANICUCCI,CHIARA ROMEO,CLAUDIO BRUNO,FEDERICO ZARA,MICHELE IACOMINO,MONICA TRAVERSO,PAOLO BRODA,SERENA BARATTO

Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report

CHIARA ORSINI,LUISA POLITANO,PAOLA D’AMBROSIO,VINCENZO NIGRO

Myotonic dystrophy type 1 and pulmonary embolism: successful thrombus resolution with dabigatran etexilate therapy

ANDREA ANTONIO PAPA,ANNA RAGO,ANTONIO CASSESE,EMANUELE GALLINORO,GIOVANNI CIMMINO,MARIA CRISTINA GIADA MAGLIOCCA,NADIA DELLA CIOPPA,PAOLO GOLINO,SIMONA SPERLONGANO

PROCEEDINGS OF THE XVIII CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY

Usefulness of the external loop recorder in a patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations: evaluation of the follow-up from diagnosis to 6 month-post-cardiac interventional treatment

ANDREA ANTONIO PAPA,ANNA RAGO,ANTONIO CASSESE,DARIO GALANTE,PAOLO GOLINO

SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family

ANA FERNáNDEZ-MARMIESSE,FRANCISCO LARANJEIRA,LUCIANO ALMENDRA,LUíS NEGR？O

Proceedings of the XIII Congress of mediterranean society of Myology

The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence

ANTONIO TOSCANO,CARMELO CHISARI,ELENA CARRARO,GABRIELE SICILIANO,GIOVANNI IOLASCON,MICHELE VITACCA,PIETRO FIORE,SONIA MESSINA,TIZIANA ENRICA GIOVANNA MONGINI,VALERIA A. SANSONE

Immune-mediated necrotizing myopathy due to statins exposure

ALBERTO LERARIO,CATERINA MATINATO,CLAUDIA CINNANTE,FABIO TRIULZI,FEDERICA DE LISO,FERRUCCIO CERIOTTI,LORENZO PEVERELLI,LUISA VILLA,MAURIZIO MOGGIO,MONICA SCIACCO,ROBERTO TIRONI,SONIA CALLONI

Novel desmoplakin mutations in familial Carvajal syndrome

DANAT YERMAKOVICH,IRYNA MOTUK,LARYSA SIVITSKAYA,NINA DANILENKO,TATIYANA VAIKHANSKAYA

Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy

Ana Fernández-Marmiesse,Joana Ribeiro,Luís Negr？o,Olinda Rebelo

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey

AYCAN üNALP,AY？A ERSEN DANYEL？,BAHAR TOKLU BAYSAL,CEM PAKET？？,DERYA OKUR,ERDENER ？ZER,ERHAN BAYRAM,FIGEN BAYDAN,FILIZ HAZAN,G？KHAN UYANIK,GüL AKTAN,GüLDEN D？N？Z,GüL？IN AKINCI,HüLYA SEVCAN DA？MAGüLER,MUZAFFER POLAT,SEBAHATTIN ？IRAK,SEMRA HIZ,ULU？ Y？？

Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-up

ALBERTO PALLADINO,ANDREA ANTONIO PAPA,ANNA RAGO,ANTONIO CASSESE,DARIO GALANTE,FEDERICA VERRILLO,MARIA CRISTINA GIADA MAGLIOCCA,MARIANNA SCUTIFERO,NADIA DELLA CIOPPA,PAOLO GOLINO,SALVATORE MORRA

Metabolic impairments in patients with myotonic dystrophy type 2

DUSANKA SAVIC-PAVICEVIC,JOVAN PESOVIC,MILORAD VUJNIC,NATASA BENOVIC,STOJAN PERIC,TANJA NISIC,VIDOSAVA RAKOCEVIC-STOJANOVIC,ZELJKA CALIC

Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene

Anna Brunn,Gereon R. Fink,Gilbert Wunderlich,Helmar C. Lehmann,Hülya-Sevcan Daimagüler,Joachim Weis,Sebahattin Cirak,Tarik Bozoglu

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis

ALEXANDER PEPLER MBIOL,CHUNXIANG FAN,FRANK LEHMANN-HORN,JAMES GROOME,KARIN JURKAT-ROTT,MARIUS KUHN,SASKIA BISKUP,VERN WINSTON

Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of italian patients with spinal-bulbar muscular atrophy

CRISTINA MARTINI,DAVID SACERDOTI,FRANCESCO FRANCINI-PESENTI,GIORGIA QUERIN,SARA MARESO

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation

BRIAN F. MEYER,DOROTA MONIES,HATEM N. MURAD,HINDI N. AL-HINDI,HUSSAM ABOU-AL-SHAAR,MOHAMED S. BOHLEGA,SAEED A. BOHLEGA,SARAH ALFAWAZ

Effect on lung function of mounthpiece ventilation in Steinert disease. A case report

Anna Annunziata,Antonio Esquinas,Giuseppe Fiorentino

EDITORIAL

Giovanni Nigro

Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene

Anna Ardissone,Isabella Moroni,Pia Bernasconi,Raffaella Brugnoni

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions

Adele D'Amico,Alessandra Gaiani,Alessandra Sagliocchi,Angela Berardinelli,Antonella Zaccaro,Claudio Semplicini,Corrado Angelini,Erika Brighina,Federica Civati,Gianluca Vita,Giulia Colia,Giulia Ricci,Giuseppe Vita,Guja Astrea,Lorenza Magliano,Luca Bello,Luisa Politano,Maria Catteruccia,Maria Chiara Motta,Maria Elena Lombardo,Maria Grazia D'Angelo,Maria Sframeli,Marianna Scutifero,Marika Pane,Melania Patalano,Roberta Battini,Roberta Scalise,Sonia Messina,Umberto Balottin

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

ADELE D’AMICO,ENRICO BERTINI,FRANK LEHMANN-HORN,FRANK SPAANS,GABRIELE SICILIANO,HEIKE PHILIPPI,KARIN JURKAT-ROTT,KEVIN R. NELSON,LUCIANO MERLINI,MAURO LOMONACO

23Na MRI and myometry to compare eplerenone vs. glucocorticoid treatment in Duchenne dystrophy

Andreas E. Ziegler,Armin M. Nagel,David Simons,Frank Lehmann-Horn,Heike Jaeger,Heinz-Peter Schlemmer,Karin Jurkat-Rott,Marc-André Weber,Philip A. Glemser

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

ANGELICA BIANCO,LEONARDO D’AGRUMA,LUCIANA RUSSO,LUIGI BISCEGLIA,PAOLO TREROTOLI,SILVANA GUERRIERO,VITTORIA PETRUZZELLA

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

CELINE BALIGAND,CLAUDIA SENESAC,DONOVAN J. LOTT,GLENN A. WALTER,ILONA SCHMALFUSS,JASJIT DEOL,KRISTA VANDENBORNE,MICHAEL J. DANIELS,REBECCA J. WILLCOCKS,STEPHEN M. CHRZANOWSKI

ERRATA

Bethlem myopathy in a Portuguese patient – case report

ANA INêS MARTINS,CRISTIN MAARQUE,JORGE PINTO-BASTO,LUIS NEGR？O

Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report

ALBERTO PALLADINO,ANDREA ANTONIO PAPA,ANNA RAGO,CIRO MAIELLO,MARIANNA SCUTIFERO,MARISA DE FEO,PAOLA D’AMBROSIO,ROBERTA PETILLO

ERRATA

Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?

Costanza Simoncini,Gabriele Siciliano,Gloria Tognoni,Michelangelo Mancuso

Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry

CHIARA BRUSA,ELISA VITTONATTO,FEDERICA RICCI,INNOCENZO RAINERO,LILIANA VERCELLI,LOREDANA CHIADò-PIAT,SARA BORTOLANI,SILVIA BOSCHI,TIZIANA MONGINI,VALENTINA PONZALINO

Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results

ESTHER PICILLO,LUISA POLITANO1,MANUELA ERGOLI,MASSIMO VENDITTI,RAFFAELE DOTOLO,SERGIO MINUCCI

PROCEEDINGS OF THE XVII CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY Siracusa, Italy May 31 - June 3, 2017

The multifaceted clinical presentation of VCP-proteinopathy in a Greek family

ANASTASIA BOUGEA,CHRISOSTOMOS KARAGIAOURIS,ELISABETH KAPAKI,GEORGE K. PAPADIMAS,GEORGE P. PARASKEVAS,MAGGIE C. WALTER,MARA BOURBOULI,NICOLAS U. SCHUMACHER,SABINE KRAUSE,THOMAS ZAMBELIS

Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene

LARYSA N. SIVITSKAYA,NINA G. DANILENKO,OLEG G. DAVYDENKO,TATIYANA G. VAIKHANSKAYA,TATSIYANA V. KURUSHKA

Complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a patient with Myotonic Dystrophy type 1 and atrial fibrillation

ALBERTO PALLADINO,ANDREA ANTONIO PAPA,ANNA RAGO,ANTONIO CASSESE,GIULIA ARENA,MARCO MOSELLA,PAOLO GOLINO

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

ANNINA S. VISCHER,ANTONIOS A. PANTAZIS,CAROLINE J. COATS,DAVID J. CONNOLLY,SILVIA CASTELLETTI,VIRGINIA LUIS FUENTES,WILLIAM J. MCKENNA

Personality traits in patients with myotonic dystrophy type 2

Aleksandra Parojcic,Dragana Lavrnic,Dusanka Savic-Pavicevic,Ivana Basta,Jovan Pesovic,Milorad Vujnic,Stojan Peric,Teodora Paunic,Vidosava Rakocevic-Stojanovic

Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs

Angelini Corrado,Astrea Guja,Balottin Umberto,Battini Roberta,Bello Luca,Berardinelli Angela,Brighina Erika,Catteruccia Maria,Civati Federica,Colia Giulia,D'Amico Adele,D'Angelo Maria_Grazia,Gaiani Alessandra,Lombardo Maria_Elena,Magliano Lorenza,Messina Sonia,Motta Maria_Chiara,Pane Marika,Patalano Melania,Politano Luisa,Ricci Giulia,Sagliocchi Alessandra,Scalise Roberta,Scutifero Marianna,Semplicini Claudio,Sframeli Maria,Vita Gianluca,Vita Giuseppe,Zaccaro Antonella

PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016