Article
Differentiating Congenital Myopathy from Congenital Muscular Dystrophy.
Clinics in perinatology - 1 Mar 2020
Harmelink Matthew
Abstract excerpt
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...
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