Further genetic sequencing revealed missense VUS in the glycogen phosphorylase, muscle associated (PYGM) gene (c.580C>T) and tropomyosin 2 (TPM2) gene (c.536C>T), in addition to a missense pathogenic mutation in the valosin containing protein (VCP) gene, confirming the diagnosis of VCP myopathy. This evidence concerns the gene VCP and myopathy.