De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

OBJECTIVE: To determine the genetic etiology of a young woman presenting an early-onset, progressive neurodegenerative disorder with evidence of decreased mitochondrial complex I and IV activities in skeletal muscle suggestive of a mitochondrial disorder. METHODS: A case report including diagnostic...

Descripción completa

Detalles Bibliográficos
Autores principales: Sommerville, Ewen W., Alston, Charlotte L., Pyle, Angela, He, Langping, Falkous, Gavin, Naismith, Karen, Chinnery, Patrick F., McFarland, Robert, Taylor, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610040/
https://www.ncbi.nlm.nih.gov/pubmed/28955726
http://dx.doi.org/10.1212/NXG.0000000000000187

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610040/
https://www.ncbi.nlm.nih.gov/pubmed/28955726
http://dx.doi.org/10.1212/NXG.0000000000000187

Ejemplares similares