{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T02:08:46Z","timestamp":1780106926401,"version":"3.54.0"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T00:00:00Z","timestamp":1678752000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The concept of a myopathy with associated tremor (\u201cmyogenic tremor\u201d) in humans has been previously described for specific <jats:italic>MYBPC1<\/jats:italic> (Myosin\u2010Binding Protein C) variants. Here we report for the first time an individual with tremor who was found to have a de\u2010novo likely pathogenic variant in Myosin Heavy Chain 7 (MYH7<jats:italic>).<\/jats:italic><\/jats:p><\/jats:sec><jats:sec><jats:label\/><jats:p>We provide a detailed electrophysiological characterization of the tremor syndrome in a human individual with a myopathy and this pathogenic MYH7 variant to provide further insight in the phenotypic spectrum and pathomechanism of myogenic tremors in skeletal sarcomeric myopathies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Electromyographic recordings were obtained from facial muscles, as well as bilateral upper and lower extremities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>10 to 11\u2009Hz activity was observed in the face and extremities during recordings with muscle activation. There were intermittent episodes of significant left\u2013right coherence that would modulate across muscle groups throughout the recording, but no coherence between muscles at different levels of the neuraxis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A possible explanation for this phenomenon is that the tremor originates at the sarcomere level within muscles, which is then picked up by muscle spindles and leads to activating input to the neuraxis segment. At the same time, the stability of the tremor frequency does suggest the presence of central oscillators at the segmental level. Thus, further studies will be needed to determine the origin of myogenic tremor and to better understand the pathomechanism.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13664","type":"journal-article","created":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T07:05:20Z","timestamp":1674543920000},"page":"646-651","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Electrophysiological Characterization of a <scp><i>MYH7<\/i><\/scp> Variant with Tremor Phenotype"],"prefix":"10.1002","volume":"10","author":[{"given":"Felipe","family":"Vial","sequence":"first","affiliation":[{"name":"Human Motor Control Section, National Institute of Neurological Disorders and Stroke National Institutes of Health  Bethesda Maryland USA"},{"name":"Facultad de Medicina Cl\u00ednica Alemana Universidad del Desarrollo  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6962-9582","authenticated-orcid":false,"given":"Patrick","family":"McGurrin","sequence":"additional","affiliation":[{"name":"Human Motor Control Section, National Institute of Neurological Disorders and Stroke National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Osterholt","sequence":"additional","affiliation":[{"name":"Human Motor Control Section, National Institute of Neurological Disorders and Stroke National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debra J.","family":"Ehrlich","sequence":"additional","affiliation":[{"name":"Parkinson's Disease Clinic, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan T.","family":"Iannacone","sequence":"additional","affiliation":[{"name":"Department of Pediatrics UT Southwestern Medical Center  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Donkervoort","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah B.","family":"Neuhaus","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine C.","family":"Chao","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics, Program in Medical and Population Genetics Broad Institute of MIT and Harvard  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G.","family":"B\u00f6nnemann","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietrich","family":"Haubenberger","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Institute of Neurological Disorders and Stroke, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3180-6811","authenticated-orcid":false,"given":"Mark","family":"Hallett","sequence":"additional","affiliation":[{"name":"Human Motor Control Section, National Institute of Neurological Disorders and Stroke National Institutes of Health  Bethesda Maryland 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