A novel mitochondrial tRNA(Ala) 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...

Descripción completa

Detalles Bibliográficos
Autores principales: Filosto, Massimiliano, Lanzi, Gaetana, Nesti, Claudia, Vielmi, Valentina, Marchina, Eleonora, Galvagni, Anna, Giliani, Silvia, Santorelli, Filippo M., Padovani, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789388/
https://www.ncbi.nlm.nih.gov/pubmed/27014581
http://dx.doi.org/10.1016/j.ymgmr.2016.02.001

Ejemplares similares

Ejemplares similares