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Loret, Amy | Genetic Modifiers of Severity in Collagen VI-Related Muscular Dystrophy | Collagen VI-related muscular dystrophies (COL6-RD) display phenotypic heterogeneity that includes mild Bethlem myopathy (BM), intermediate (INT), and severe Ullrich congenital muscular dystrophy (UCMD) phenotypes. COL6-RD are characterized by mutations within the collagen VI genes (COL6A1, COL6A2, a... | heterogeneity; characterized; Resulting symptoms | 2019 |
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