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Table 2 Recruited patients with undermined muscle disease

From: Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

Clinical presentation Nbr of patients (pediatric patients) Proportion of clinical presentations (%) Proportion of diagnoses (%)
Motor delay or generalized hypotonia 4 (4) 4/34 (11.8%) 2/11 (18%)
Limb-girdle muscle weakness 17 (1) 17/34 (50.0%) 6/11 (55%)
Proximal and distal limb muscle weakness 4 (2) 4/34 (11.8%) 3/11 (27%)
Other muscle weakness 3 (0) 3/34 (8.8%) 0/11 (0%)
Chronic and unexplained hyperCKemia 6 (0) 6/34 (17.6%) 0/11 (0%)
Total 34 (7) 100% 11/34 (32%)