Why the study?
Genotype-phenotype relationships in myotonic channelopathies are complex with poor clinical correlations, and the molecular bases for clinical variability remain obscure.
Design
Review
Authors
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Characterizing Cl-/Na+ channel mutations in NDM may inform targeted approaches; leaves open need for prospective trials before practice change.
The genotype-phenotype relationships in myotonic channelopathies are highly complex, requiring further functional analyses and genetic screening to improve clinical correlations.
Morales et al. (2020) studied this question.
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