Provides prospective data on the prevalence, phenotypes, and genotypes of congenital myopathies in patients older than 5 years in Denmark.
May inform adult congenital myopathy diagnostics; leaves open generalizability of subtype prevalence and genotype-phenotype data.
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 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.
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Witting et al. (2017) studied this question.
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