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

Abstract excerpt

OBJECTIVE: Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population. METHODS: A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically. RESULTS: mutations. CONCLUSIONS: mutations and...

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