This is important because initial clinical presentation in our family, with CK over 1,000 IU/L and muscle histology indicated a predominantly myopathic process, pointed toward a genetically determined distal myopathy, and the differential diagnosis did not include mutations in HSPB1. Targeted sequencing of genes previously known to cause a distal myopathy did not identify the underlying cause, which was only revealed through whole-exome sequencing. The gene discussed is HSPB1; the disease is distal myopathy.