Population
Patients with congenital myopathies
Design
Review
Authors
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Muscle pathology retains value for variant interpretation in congenital myopathies; leaves open refined genotype-phenotype correlations amid heterogeneity.
Despite advances in whole exome sequencing, muscle pathology remains crucial for clarifying the pathogenicity of gene variants in congenital myopathies.
Sewry et al. (2016) studied this question.
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