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Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders

26 Jun 2020

Abstract excerpt

Introduction: Inherited myotonic disorders are genetically heterogeneous and associated with overlapping clinical features of muscle stiffness, weakness, and pain. Data on genotype-phenotype correlations are limited. In this study, clinical features and treatment patterns in genetically characterized myotonic disorders were compared. Methods: A retrospective chart review was completed in patients with genetic...

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PMID: 32670189
DOI: 10.3389/fneur.2020.00593

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