Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT

OBJECTIVE: To report the clinical, radiologic, biochemical, and molecular characteristics in a 46-year-old participant with adult-onset Leigh syndrome (LS), followed by parkinsonism. METHODS: Case description with diagnostic workup included blood and CSF analysis, skeletal muscle investigations, blu...

Descripción completa

Detalles Bibliográficos
Autores principales: Hemelsoet, Dimitri M., Vanlander, Arnaud V., Smet, Joél, Vantroys, Elise, Acou, Marjan, Goethals, Ingeborg, Sante, Tom, Seneca, Sara, Menten, Bjorn, Van Coster, Rudy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278240/
https://www.ncbi.nlm.nih.gov/pubmed/30569017
http://dx.doi.org/10.1212/NXG.0000000000000298

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278240/
https://www.ncbi.nlm.nih.gov/pubmed/30569017
http://dx.doi.org/10.1212/NXG.0000000000000298

Ejemplares similares