Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO

OBJECTIVE: To determine the pathogenicity of a novel POLG mutation in a man with late-onset autosomal recessive progressive external ophthalmoplegia using clinical, molecular, and biochemical analyses. METHODS: A multipronged approach with detailed neurologic examinations, muscle biopsy analyses, mo...

Descripción completa

Detalles Bibliográficos
Autores principales: Hedberg-Oldfors, Carola, Macao, Bertil, Basu, Swaraj, Lindberg, Christopher, Peter, Bradley, Erdinc, Direnis, Uhler, Jay P., Larsson, Erik, Falkenberg, Maria, Oldfors, Anders
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975171/
https://www.ncbi.nlm.nih.gov/pubmed/32042919
http://dx.doi.org/10.1212/NXG.0000000000000391

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975171/
https://www.ncbi.nlm.nih.gov/pubmed/32042919
http://dx.doi.org/10.1212/NXG.0000000000000391

Ejemplares similares