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Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype

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dc.contributor.authorVial Undurraga, Felipe
dc.contributor.authorGurrin, Patrick M.
dc.contributor.authorOsterholt, Thomas
dc.contributor.authorEhrlich, Debra J.
dc.contributor.authorIannacone, Susan T.
dc.contributor.authorDonkervoort, Sandra
dc.contributor.authorNeuhaus, Sarah B.
dc.contributor.authorChao, Katherine C.
dc.contributor.authorBönnemann, Carsten G.
dc.contributor.authorHaubenberger, Dietrich
dc.contributor.authorHallet, Mark
dc.date.accessioned2024-06-05T20:10:18Z
dc.date.available2024-06-05T20:10:18Z
dc.date.issued2023
dc.description.abstractBackground: 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). 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. Methods: Electromyographic recordings were obtained from facial muscles, as well as bilateral upper and lower extremities. Results: 10 to 11 Hz activity was observed in the face and extremities during recordings with muscle activation. There were intermittent episodes of significant left-right coherence that would modulate across muscle groups throughout the recording, but no coherence between muscles at different levels of the neuraxis. Conclusions: 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.
dc.description.versionVersión publicada
dc.format.extent6 p.
dc.identifier.citationVial F, McGurrin P, Osterholt T, Ehrlich DJ, Iannacone ST, Donkervoort S, Neuhaus SB, Chao KC, Bönnemann CG, Haubenberger D, Hallett M. Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype. Mov Disord Clin Pract. 2023 Mar 14;10(4):646-651. doi: 10.1002/mdc3.13664
dc.identifier.doihttps://doi.org/10.1002/mdc3.13664
dc.identifier.urihttps://hdl.handle.net/11447/9051
dc.language.isoen
dc.subjectCampus syndrome
dc.subjectTremor
dc.titleElectrophysiological Characterization of a MYH7 Variant with Tremor Phenotype
dc.typeArticle
dcterms.accessRightsAcceso abierto
dcterms.sourceMovement Disorders Clinical Practice
dspace.entity.typePublication
relation.isAuthorOfPublication179d13e5-e6ce-4f28-bcd3-69797750d322
relation.isAuthorOfPublication.latestForDiscovery179d13e5-e6ce-4f28-bcd3-69797750d322

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