At 21 years of age, the patient was assessed using a targeted next-generation sequencing-based panel containing 256 neuromuscular disease genes, and found to have a compound heterozygous mutation c.589G > A (p.Val197Met)/c.1742T > C (p.lle581Thr) in the gene (ACADVL, MIM 609565) encoding VLCAD. The gene discussed is ACADVL; the disease is neuromuscular disease.