Article
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2017
Da Pozzo Paola, Cardaioli Elena, Rubegni Anna, Gallus Gian Nicola, Malandrini Alessandro, Rufa Alessandra, Battisti Carla, Carluccio Maria Alessandra, Rocchi Raffaele, Giannini Fabio, Bianchi Amedeo, Mancuso Michelangelo, Siciliano Gabriele, Dotti Maria Teresa, Federico Antonio
Abstract excerpt
POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mtDNA) replication and repair. Mutations in POLG have been linked to a spectrum of clinical phenotypes, resulting in autosomal recessive or dominant mitochondrial diseases. These mutations have been associated with heterogeneous phenotypes, presenting with varying severity and at different ages of onset, ranging from...
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