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

Affiliations

• ¹ Department of Medical, Surgical, Neurological, Aging and Metabolic Sciences, Second University of Naples, Naples, Italy.
• ² Department of Experimental Medicine, Second University of Naples, Naples, Italy.
• ³ Institute of Genetics and Biophysics, CNR, Naples, Italy.