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

An autosomal dominantEn génétique, c’est la caractéristique d’un individu qui n’a besoin que d’un seul exemplaire d’un certain gène (allèle) pour s’exprimer. Cet exemplaire unique peut venir du père ou de la mère. 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 mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). 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