Redefining phenotypes associated with mitochondrial DNA single deletion.

doi:10.1007/s00415-015-7710-y

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Article

Redefining phenotypes associated with mitochondrial DNA single deletion.

Journal of neurology - 1 May 2015

Mancuso Michelangelo, Orsucci Daniele, Angelini Corrado, Bertini Enrico, Carelli Valerio, Comi Giacomo Pietro, Donati Maria Alice, Federico Antonio, Minetti Carlo, Moggio Maurizio, Mongini Tiziana, Santorelli Filippo Maria, Servidei Serenella, Tonin Paola, Toscano Antonio, Bruno Claudio, Bello Luca, Caldarazzo Ienco Elena, Cardaioli Elena, Catteruccia Michela, Da Pozzo Paola, Filosto Massimiliano, Lamperti Costanza, Moroni Isabella, Musumeci Olimpia, Pegoraro Elena, Ronchi Dario, Sauchelli Donato, Scarpelli Mauro, Sciacco Monica, Valentino Maria Lucia, Vercelli Liliana, Zeviani Massimo, Siciliano Gabriele

Abstract excerpt

Progressive external ophthalmoplegia (PEO), Kearns-Sayre syndrome (KSS) and Pearson syndrome are the three sporadic clinical syndromes classically associated with single large-scale deletions of mitochondrial DNA (mtDNA). PEO plus is a term frequently utilized in the clinical setting to identify patients with PEO and some degree of multisystem involvement, but a precise definition is not available. The purpose of...

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PMID: 25808502
DOI: 10.1007/s00415-015-7710-y

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