Purificación Gutiérrez Ríos

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

S. Dimauro, R. Kardon, M. Mancuso, 2008, Archives of neurology.

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

V. Mootha, N. Bresolin, G. Comi, 2012, Brain : a journal of neurology.

TK2 mutation presenting as indolent myopathy

S. Dimauro, E. Rivas, C. Paradas, 2013, Neurology.

Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.

S. Dimauro, E. Schon, H. Akman, 2012, Archives of neurology.