Identificación de mutaciones en el gen CPT2 en un caso con déficit muscular de carnitina palmitoiltransferasa II,

The p.R151Q mutation has been described in homozygous and compound heterozygous (p.R151Q and p.P227L) patients with the severe form. The p.S113L mutation has not been associated with “severe mutations”. We suggest that expression of the “benign” p.S113L allele might counteract the deleterious effects of the p.R151Q allele, which may account for the milder phenotype observed in the patient.