A novel m.3395AÂ >Â G missense mutation in the mitochondrial ND1 gene associated with the new tRNAIle m.4316AÂ >Â G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss

► We report 2 novel mitochondrial mutations a patient with hypertrophic cardiomyopathy and hearing loss. ► The m.3395A > G (Y30C, ND1) mutation is located in an extramembrane loop linking the helix A and the helix B of the ND1 protein. ► The 2 novel heteroplasmic mutations may act synergistically and exert a cumulative negative effect on heart function.