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...

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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Filosto, Massimiliano, Lanzi, Gaetana, Nesti, Claudia, Vielmi, Valentina, Marchina, Eleonora, Galvagni, Anna, Giliani, Silvia, Santorelli, Filippo M., Padovani, Alessandro
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4789388/
https://ncbi.nlm.nih.gov/pubmed/27014581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.02.001
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