Similar results were obtained in an NSML patient with hypertrophic cardiomyopathy caused by a mutation in PTPN11, where the levels of pAKT and pS6RP (a downstream target of mTOR) in the patient’s skin fibroblasts demonstrated enhanced PI3K/AKT/mTOR pathway activity. This evidence concerns the gene MTOR and hypertrophic cardiomyopathy.