Dysferlin mutations and mitochondrial dysfunction

Dysferlinopathies are caused by mutations in the DYSF gene and patients may present with proximal or distal myopathy. Dysferlin is responsible for membrane resealing, and mutations may result in a defect in membrane repair following mechanical or chemical stress, causing an influx of Ca(2+). Since m...

Descripción completa

Detalles Bibliográficos
Autores principales: Vincent, Amy E., Rosa, Hannah S., Alston, Charlotte L., Grady, John P., Rygiel, Karolina A., Rocha, Mariana C., Barresi, Rita, Taylor, Robert W., Turnbull, Doug M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5091283/
https://www.ncbi.nlm.nih.gov/pubmed/27666772
http://dx.doi.org/10.1016/j.nmd.2016.08.008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5091283/
https://www.ncbi.nlm.nih.gov/pubmed/27666772
http://dx.doi.org/10.1016/j.nmd.2016.08.008

Ejemplares similares