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- W2979790622 abstract "The congenital muscular dystrophies and congenital myopathies are a heterogenous group of diseases with a wide variety of presentations and outcomes. With the growing understanding of genetic involvement, and developing therapies, having a genetically confirmed diagnosis with phenotype correlation is essential. To achieve this, a structured approach is warranted to each child to ensure that mimickers are excluded. By structuring the evaluation appropriately, the clinician can help expedite the evaluation of these infants in a cost-effective manner. Understanding the pitfalls of each step of testing will allow the clinician to better understand variants in presentation and avoid cognitive errors in the process." @default.
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- W2979790622 date "2020-03-01" @default.
- W2979790622 modified "2023-09-25" @default.
- W2979790622 title "Differentiating Congenital Myopathy from Congenital Muscular Dystrophy" @default.
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- W2979790622 doi "https://doi.org/10.1016/j.clp.2019.10.005" @default.
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