Mild myopathy and myogenic tremors are invariably linked to inherited mutations in MYBCP1


  • Dominantly-inherited missense mutations in myosin binding protein-C 1 (MYBCP1) are associated with mild skeletal myopathy with distinctive myogenic tremors.

Why this matters

  • Identifying genetic variants of MYBCP1 may explain overlooked features of disease, such as unexplained tremors associated with myopathy.