Article ID Journal Published Year Pages File Type
10764617 Biochemical and Biophysical Research Communications 2011 7 Pages PDF
Abstract
► 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.
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Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Preview
A novel m.3395A > G missense mutation in the mitochondrial ND1 gene associated with the new tRNAIle m.4316A > G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss
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