Cargando…
The genetics of Leigh syndrome and its implications for clinical practice and risk management
Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentlessly progressive and devastating to both the patient and the patient’s family. Attributed to the ultimate failure of the mitochondrial respiratory chain,...
Autores principales: | Ruhoy, Ilene S, Saneto, Russell P |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235479/ https://www.ncbi.nlm.nih.gov/pubmed/25419155 http://dx.doi.org/10.2147/TACG.S46176 |
Ejemplares similares
-
The genetic basis of Lynch syndrome and its implications for clinical practice and risk management
por: Cohen, Stephanie A, et al.
Publicado: (2014) -
Genetic basis of Cowden syndrome and its implications for clinical practice and risk management
por: Gammon, Amanda, et al.
Publicado: (2016) -
Management of Leigh syndrome due to NDUFAF6 variants
por: Finsterer, Josef, et al.
Publicado: (2019) -
Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
por: Wang, Junling, et al.
Publicado: (2021) -
Alpers–Huttenlocher syndrome: the role of a multidisciplinary health care team
por: Saneto, Russell P
Publicado: (2016)