A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 29395179.
- Also identified by DOI 10.1016/j.jpeds.2017.12.043.
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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.
Medical subject headings
- Electron Transport Complex I
- Mitochondrial Diseases
- NADH Dehydrogenase