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
Title:
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
Author:
Bacalhau, Mafalda Simões, Marta Rocha, Mariana C. Hardy, Steven A. Vincent, Amy E. Durães, João Macário, Maria C. Santos, Maria João Rebelo, Olinda Lopes, Carla Pratas, João Mendes, Cândida Zuzarte, Mónica Rego, A. Cristina Girão, Henrique Wong, Lee-Jun C. Taylor, Robert W. Grazina, Manuela