A Unique Myopathy Syndrome in a Patient Disclosing Clinical, Laboratory, and Genetic Findings of Late-Onset Pompe Disease, Together with a Lack of Dysferlin on Muscle Biopsy

Issue title: Abstracts from the 7th European Symposium on Steps Forward in Pompe Disease: Turin, Italy, November 21–22, 2014

Article type: Research Article

Authors: Sampaolo, Simone | Lombardi, Luca | Pascarella, Angelo | Picillo, Esther | Farina, Olimpia | Esposito, Teresa | Politano, Luisa | Di Iorio, Giuseppe

Affiliations: Department of Medical, Surgical, Neurological, Aging and Metabolic Sciences, Second University of Naples, Naples, Italy | Department of Experimental Medicine, Second University of Naples, Naples, Italy | Institute of Genetics and Biophysics, CNR, Naples, Italy

Note: [] Correspondence to: Simone Sampaolo, Department of Medical, Surgical, Neurological, Aging and Metabolic Sciences, Second University of Naples, Naples, Italy. E-mail: [email protected]

DOI: 10.3233/JND-159027

Journal: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S29-S30, 2015