Progressive external ophthalmoplegia associated with novel MT-TN mutations.

Kittichate Visuttijai Carola Hedberg-Oldfors Ulrika LindgrenSara NordströmOlöf Eliasdottir Christopher Lindberg Anders Oldfors

Published in: Acta neurologica Scandinavica (2020)

We describe two MT-TN mutations associated with PEO and mitochondrial myopathy, and their pathogenicity was demonstrated. Together with previous reports, the results indicate that MT-TN is a hot spot for mutations causing sporadic PEO.

Keyphrases

oxidative stress
late onset
multiple sclerosis
escherichia coli
staphylococcus aureus
pseudomonas aeruginosa
early onset
adverse drug
biofilm formation