Muscle tremor is no longer the exclusive preserve of the MYBPC1 gene

An autosomal dominant hereditary myopathy with, phenotypically, a very marked tremor in the foreground has recently been described and linked to the MYBPC1 gene encoding a myosin-associated protein C. The authors of this ultra-rare disease report another case, but with a different genotype:

  • the patient concerned had mild myopathy but a marked tremor of the extremities,
  • high-throughput sequencing (NGS) identified a de novo mutation in the MYH7 gene encoding a myosin heavy chain,
  • electroneuromyography showed a distinctive and recognisable profile.

The authors have attempted to provide pathophysiological explanations, but much remains to be understood.


Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype. Vial F, McGurrin P, Osterholt T et al. Mov Disord Clin Pract. 2023 Mar 14;10(4):646-651