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T.I.1 Potential for gene therapy in DMD

(population 5.5 million). We conducted a screening program in the largest neuromuscular clinic, and respiratory center in Denmark, as we hypothesised that the condition may be overlooked. The inclusion criteria were age (over 15 years), unexplained hyper-CK-aemia and myopathy, unclassified Limb-girdle muscular dystrophy (LGMD) and unexplained, restrictive respiratory insufficiency. We went through medical journals and 123 patients (67 from the neuromuscular clinic and 56 from the respiratory center) met the inclusion criteria. Forty three neuromuscular and 17 respiratory patients accepted screening, which was conducted using Dried blood spots (DBS). We found three patients, with low activity of GAA, and molecular genetic analysis confirmed pathogenic mutations in all patients. All three patients were from the neuromuscular clinic, and were diagnosed as cases of unclassified LGMD. Among 28 patients with a LGMD phenotype, three had Pompe disease. The results suggest that adult Pompe disease in Denmark is underdiagnosed. DBS is a cheap and effective method to screen for Pompe disease. As treatment is available for Pompe disease, we suggest that a DBS should be taken early in the course of evaluation of a patient with a LGMD phenotype.