Publication
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant
Mafalda Bacalhau, Marta Simões, Mariana C. Rocha, Steven A. Hardy, Amy E. Vincent, João Durães, Maria C. Macário, Maria João Santos, Olinda Rebelo, Carla Lopes, João Pratas, Cândida Mendes, Mónica Zuzarte, A. Cristina Rego, Henrique Girão, Lee-Jun C. Wong, Robert W. Taylor, Manuela Grazina
Neuromuscular Disorders, April 2018, Elsevier
DOI: 10.1016/j.nmd.2017.11.006