Article
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.
PloS one - 1 Jan 2012
Achilli Alessandro, Iommarini Luisa, Olivieri Anna, Pala Maria, Hooshiar Kashani Baharak, Reynier Pascal, La Morgia Chiara, Valentino Maria Lucia, Liguori Rocco, Pizza Fabio, Barboni Piero, Sadun Federico, De Negri Anna Maria, Zeviani Massimo, Dollfus Helene, Moulignier Antoine, Ducos Ghislaine, Orssaud Christophe, Bonneau Dominique, Procaccio Vincent, Leo-Kottler Beate, Fauser Sascha, Wissinger Bernd, Amati-Bonneau Patrizia, Torroni Antonio, Carelli Valerio
Abstract excerpt
BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively in MT-ND4, MT-ND1 and MT-ND6 genes). However, the spectrum of mtDNA mutations causing the remaining 10% of cases is only partially and often poorly defined....
Topics
- Amino Acid Sequence
- Base Sequence
- Conserved Sequence
- DNA, Mitochondrial
- Family
- Humans
- Mitochondrial Proteins
- Molecular Sequence Data