Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

Leber ’s hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by a variable and reduced penetrance. Individuals carrying a primary LHON-causing mitochondrial DNA (mtDNA) mutation ...

Source: BMC Research Notes - December 20, 2018 Category: Research Authors: Angelica Bianco, Alessio Valletti, Giovanna Longo, Luigi Bisceglia, Julio Montoya, Sonia Emperador, Silvana Guerriero and Vittoria Petruzzella Tags: Data note Source Type: research