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The concept of a myopathy with associated tremor (“myogenic tremor”) in humans has been previously described for specific MYBPC1 (Myosin‐Binding Protein C) variants. Here we report for the first time… Click to show full abstract
The concept of a myopathy with associated tremor (“myogenic tremor”) in humans has been previously described for specific MYBPC1 (Myosin‐Binding Protein C) variants. Here we report for the first time an individual with tremor who was found to have a de‐novo likely pathogenic variant in Myosin Heavy Chain 7 (MYH7).
Keywords:
tremor;
myh7 variant;
electrophysiological characterization;
tremor phenotype;
variant tremor;
characterization myh7
Journal Title: Movement Disorders Clinical Practice
Year Published: 2023
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Journal Title: Movement Disorders Clinical Practice
Year Published: 2023
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!