Article
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.
Mitochondrion - 1 Nov 2013
Wray Carter D, Friederich Marisa W, du Sart Desiree, Pantaleo Sarah, Smet Joél, Kucera Cathlin, Fenton Laura, Scharer Gunter, Van Coster Rudy, Van Hove Johan L K
Abstract excerpt
New mutations in mitochondrial DNA encoded genes of complex I are rarely reported. An infant developed Leigh disease with infantile spasms. Complex I enzyme activity was deficient and response to increasing coenzyme Q concentrations was reduced. Complex I assembly was intact. A new mutation in MT-ND1 m.3928G>C p.V208L, affecting a conserved amino acid in a critical domain, part of the coenzyme Q binding pocket,...
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