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We found that overall, genetic and histologic prevalence of congenital myopathy in Denmark differs from previous retrospective reports. Less  and more  and  mutations and less core histology were present in our cohort. These differences may be explained by our prospective design, the older cohort of patients, and by differences in genetic background.

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark