Article
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
American journal of human genetics - 7 Feb 2013
Ronchi Dario, Di Fonzo Alessio, Lin Weiqiang, Bordoni Andreina, Liu Changwei, Fassone Elisa, Pagliarani Serena, Rizzuti Mafalda, Zheng Li, Filosto Massimiliano, Ferrò Maria Teresa, Ranieri Michela, Magri Francesca, Peverelli Lorenzo, Li Hongzhi, Yuan Yate-Ching, Corti Stefania, Sciacco Monica, Moggio Maurizio, Bresolin Nereo, Shen Binghui, Comi Giacomo Pietro
Abstract excerpt
Syndromes associated with multiple mtDNA deletions are due to different molecular defects that can result in a wide spectrum of predominantly adult-onset clinical presentations, ranging from progressive external ophthalmoplegia (PEO) to multisystemic disorders of variable severity. The autosomal-dominant form of PEO is genetically heterogeneous. Recently, causative mutations have been reported in several nuclear...
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