New family with <i>HSPB</i> 8-associated autosomal dominant rimmed vacuolar myopathy

Abstract

We report a novel family with autosomal dominant RVM caused by the c.515dupC mutation of the <i>HSPB8</i> gene, causing a translational frameshift that results in an elongated protein. Understanding the mechanism for the RVM pathology caused by mutated chaperone will permit novel targeted strategies to alter the natural history progression. As next-generation sequencing becomes more available, additional myopathic families will be identified with <i>HSPB8</i> mutations.