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Volume 30(3);  December 2011

Original Articles

Cardiac involvement in patients with Spinal Muscular Atrophies
Alberto Palladino, Luigia Passamano, Antonella Taglia, Paola D'Ambrosio, Marianna Scutifero, Maria Rosaria Cecio, Esther Picillo, Emanuela Viggiano, Vito Torre, Francesco De Luca, Giovanni Nigro, Luisa Politano
Acta Myol. 2011 December; 30(3): 175–178.
PMCID:
PMC3298107
Abstract Full Text PDF–127K
Genetic counseling in Pompe disease
Antonella Taglia, Esther Picillo, Paola D'Ambrosio, Maria Rosaria Cecio, Emanuela Viggiano, Luisa Politano
Acta Myol. 2011 December; 30(3): 179–181.
PMCID:
PMC3298105
Abstract Full Text PDF–132K

Case Reports

Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype
Nanna Witting, Morten Duno, John Vissing
Acta Myol. 2011 December; 30(3): 182–184.
PMCID:
PMC3298095
Abstract Full Text PDF–159K
Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis
Corrado Angelini, Wolfgang Grisold, Vincenzo Nigro
Acta Myol. 2011 December; 30(3): 185–187.
PMCID:
PMC3298102
Abstract Full Text PDF–187K
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports
István Gáti, Olof Danielsson, Jon Jonasson, Anne-Marie Landtblom
Acta Myol. 2011 December; 30(3): 188–190.
PMCID:
PMC3298093
Abstract Full Text PDF–148K

Session 1. Pompe Disease: Clinical, Diagnostic and Genetic Aspects

S1.1 Introductory notes to Pompe disease and aims of the Meeting
Simone Sampaolo, Margherita Simonetti, Olimpia Farina, Federica Cipullo, Daria Diodato
Acta Myol. 2011 December; 30(3): 197–198.
PMCID:
PMC3298109
Full Text PDF–104K
S1.2 The pediatrician and the early onset Pompe disease
Simona Fecarotta, Giancarlo Parenti, Serena Ascione, Giuseppe Montefusco, Generoso Andria
Acta Myol. 2011 December; 30(3): 199.
PMCID:
PMC3298099
Full Text PDF–72K
S1.3 Adult-onset Pompe disease
Giuseppe Di Iorio, Federica Cipullo, Lucia Stromillo, Luisa Sodano, Elisa Capone, Olimpia Farina
Acta Myol. 2011 December; 30(3): 200–202.
PMCID:
PMC3298100
Full Text PDF–111K
S1.4 Cardiovascular involvement in Pompe disease
Giuseppe Limongelli, Fiorella Fratta
Acta Myol. 2011 December; 30(3): 202–203.
PMCID:
PMC3298106
Full Text PDF–96K
S1.5 Role of the pulmonologist in the late-onset Pompe disease
Giuseppe Fiorentino, Anna Annunziata, Rosa Cauteruccio, Mario Caputi
Acta Myol. 2011 December; 30(3): 203–204.
PMCID:
PMC3298098
Full Text PDF–101K
S1.6 Dry blood spot: a new method for early diagnosis
M.A. Donati
Acta Myol. 2011 December; 30(3): 204.
PMCID:
PMC3298092
Full Text PDF–77K

Session 2. Management of Pompe Disease

S2.1 Enzyme replacement therapy (ERT) in Glycogen Storage Disease Type II: the first treatment developed
Corrado Angelini, Claudio Semplicini, Marina Fanin, Annachiara Nascimbeni, Enrico Peterle, Elena Pegoraro
Acta Myol. 2011 December; 30(3): 204–205.
PMCID:
PMC3298097
Full Text PDF–105K
S2.2 Enzyme replacement therapy in the infantile-onset Pompe disease
Giancarlo Parenti, Caterina Porto, Emma Acampora, Valeria Avolio, Cristina Gagliardo, Margherita Rosa, Simona Fecarotta, Generoso Andria
Acta Myol. 2011 December; 30(3): 205–206.
PMCID:
PMC3298101
Full Text PDF–97K
S2.3 Therapeutic approaches in the late onset form of GSD II
Olimpia Musumeci, Emanuele Barca, Antonio Toscano
Acta Myol. 2011 December; 30(3): 206–207.
PMCID:
PMC3298104
Full Text PDF–95K
S2.4 The role of rehabilitation in the management of metabolic myopathies
Ilaria Riccio, Francesca Gimigliano, Giovanni Iolascon, Raffaele Gimigliano
Acta Myol. 2011 December; 30(3): 207–208.
PMCID:
PMC3298096
Full Text PDF–89K
S2.5 The nutritional approach to Pompe disease
Katia Esposito, Maria Rosaria Improta, Dario Giugliano
Acta Myol. 2011 December; 30(3): 208–209.
PMCID:
PMC3298094
Full Text PDF–88K

Session 3. the Network of Specialists

S3.1 Are there ERT defined guidelines for Pompe disease?
Antonio Toscano, Emanuele Barca, Olimpia Musumeci
Acta Myol. 2011 December; 30(3): 209–210.
PMCID:
PMC3298103
Full Text PDF–81K
S3.2 The role of Patients Association (Italian Glycogenosis Association)
L. Martino
Acta Myol. 2011 December; 30(3): 210.
PMCID:
PMC3298108
Full Text PDF–64K
Articles from Acta Myologica are provided here courtesy of Pacini Editore
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