Novel mutation in the heat shock protein beta 8 gene is linked to rimmed vacuolar myopathy

Takeaway

  • Rimmed vacuolar myopathy (RVM) is caused by a newly identified mutation in the heat shock protein beta 8 (HSPB8) gene.

Why this matters

    Understanding the causative mutation in RVM will enable novel targeted strategies to alter the natural disease course and will help recognize the clinical consequences in additional families with mutations in the HSPB8 gene.