A HeterozygousNDUFV1Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a HomoplasmicND1Variant

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Abstract

We demonstrate that a heterozygous nuclear variant in the gene encoding mitochondrial complex I subunit NDUFV1 aggravates the cellular phenotype in the presence of a mitochondrial DNA variant in complex I subunit ND1. Our findings suggest that heterozygous variants could be more significant in inherited mitochondrial diseases than hitherto assumed.

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