Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders
Author:
Publisher
Frontiers Media SA
Subject
Neurology (clinical),Neurology
Reference26 articles.
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3. Differential diagnosis of myotonic disorders;Timothy;Muscle Nerve,2008
4. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia;Trip;Eur J Hum Gene.,2008
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1. Mouse models of non-dystrophic and dystrophic myotonia exhibit nociplastic pain-like behaviors;2024-06-22
2. Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier;Muscle & Nerve;2024-06-10
3. Expert Insights from a Delphi-driven Neurologists’ Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy;Journal of Neuromuscular Diseases;2024-03-05
4. Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy;Current Issues in Molecular Biology;2024-01-29
5. Development of the Clinical Myotonia Rating Scale and a Mexiletine Prescribing and Monitoring Algorithm for Patients with Non-Dystrophic Myotonia;EMJ Neurology;2023-08-15
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