Article
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.
BMC neurology - 15 Jan 2013
Cheldi Antonella, Ronchi Dario, Bordoni Andreina, Bordo Bianca, Lanfranconi Silvia, Bellotti Maria Grazia, Corti Stefania, Lucchini Valeria, Sciacco Monica, Moggio Maurizio, Baron Pierluigi, Comi Giacomo Pietro, Colombo Antonio, Bersano Anna
Abstract excerpt
BACKGROUND: POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. CASE PRESENTATION: We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers...
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