
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
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, CândidaLangue:
english
Journal:
Neuromuscular Disorders
DOI:
10.1016/j.nmd.2017.11.006
Date:
November, 2017
Fichier:
PDF, 2.84 MB
english, 2017