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. 1998 Feb;62(2):262–268. doi: 10.1086/301716

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

L van den Heuvel 1, W Ruitenbeek 1, R Smeets 1, Z Gelman-Kohan 1, O Elpeleg 1, J Loeffen 1, F Trijbels 1, E Mariman 1, D de Bruijn 1, J Smeitink 1
PMCID: PMC1376892  PMID: 9463323

Abstract

We report the cDNA cloning, chromosomal localization, and a mutation in the human nuclear gene encoding the 18-kD (AQDQ) subunit of the mitochondrial respiratory chain complex I. The cDNA has an open reading frame of 175 amino acids and codes for a protein with a molecular mass of 23.2 kD. Its gene was mapped to chromosome 5. A homozygous 5-bp duplication, destroying a consensus phosphorylation site, in the 18-kD cDNA was found in a complex I-deficient patient. The patient showed normal muscle morphology and a remarkably nonspecific fatal progressive phenotype without increased lactate concentrations in body fluids. The child's parents were heterozygous for the mutation. In 19 other complex I-deficient patients, no mutations were found in the 18-kD gene.

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Selected References

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