A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

Chronic progressive external ophthalmoplegia is a mitochondrial disorder usually caused by single or multiple mitochondrial DNA (mtDNA) deletions and, more rarely, by maternally inherited mtDNA point mutations, most frequently in tRNA genes (MTT). We report on a patient presenting with a progressive...

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Bibliographic Details
Main Authors: Massimiliano Filosto, Gaetana Lanzi, Claudia Nesti, Valentina Vielmi, Eleonora Marchina, Anna Galvagni, Silvia Giliani, Filippo M. Santorelli, Alessandro Padovani
Format: Article
Language:English
Published: Elsevier 2016-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mitochondrial diseases
CPEO
Huntington disease
mtDNA
tRNA
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916300064

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http://www.sciencedirect.com/science/article/pii/S2214426916300064

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