PCD, an autosomal recessive disorder linked to solute carrier family 22 member 5 (SLC22A5; OCTN2) mutations, typically manifests in children aged 1–7 years, with a frequency of 1–5 per 10.000 and causes metabolic derangements including hypoketotic hypoglycemia, hepatic steatosis, myopathy, and potentially sudden death due to cardiomyopathy [4, 6]. This evidence concerns the gene SLC22A5 and myopathy.