Article
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Brain : a journal of neurology - 1 Nov 2012
Ronchi Dario, Garone Caterina, Bordoni Andreina, Gutierrez Rios Purificacion, Calvo Sarah E, Ripolone Michela, Ranieri Michela, Rizzuti Mafalda, Villa Luisa, Magri Francesca, Corti Stefania, Bresolin Nereo, Mootha Vamsi K, Moggio Maurizio, DiMauro Salvatore, Comi Giacomo P, Sciacco Monica
Abstract excerpt
The molecular diagnosis of mitochondrial disorders still remains elusive in a large proportion of patients, but advances in next generation sequencing are significantly improving our chances to detect mutations even in sporadic patients. Syndromes associated with mitochondrial DNA multiple deletions are caused by different molecular defects resulting in a wide spectrum of predominantly adult-onset clinical...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.