The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene

m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail t...

Descripción completa

Detalles Bibliográficos
Autores principales: Keilland, E., Rupar, C.A., Prasad, Asuri N., Tay, K.Y., Downie, A., Prasad, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789386/
https://www.ncbi.nlm.nih.gov/pubmed/27014580
http://dx.doi.org/10.1016/j.ymgmr.2016.02.003

Ejemplares similares

Ejemplares similares