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Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

par Van Coster, Rudy;Seneca, Sara;Smet, Joel;Van Hecke, R.;Gerlo, Erik;Devreese, B.;Van Beeumen, Jozef;Leroy, Jules ;De Meirleir, Linda;Lissens, Willy
Référence American journal of medical genetics. Part A, 120 A, 1, page (13-18)
Publication Publié, 2003-07

Article révisé par les pairs

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Résumé :

A homozygous mutation in the flavoprotein (Fp) gene associated with complex II deficiency was demonstrated in a patient with consanguineous parents. She succumbed at 5 1/2 months of age following a respiratory infection. The c1664G → A transition detected, predicted the substitution of the small uncharged glycine at position 555 by glutamic acid. Her clinical course was at variance with the Leigh syndrome in three previously reported patients due to Fp gene mutations. In this proband, CRM for flavoprotein as well as iron-containing protein (Ip) was decreased, CRM for the entire complex II (130 kDa) being reduced even more. This observation prompts speculation of a labile interaction between Ip and Fp polypeptides and of a key role of the amino acid at position 555 in the interacting domain. © 2003 Wiley-Liss, Inc.