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Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark
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 wer...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362145/ https://www.ncbi.nlm.nih.gov/pubmed/28357410 http://dx.doi.org/10.1212/NXG.0000000000000140 |