Cargando…

NARP Syndrome: A 20-Year Follow-Up

One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initia...

Descripción completa

Detalles Bibliográficos
Autores principales: Rawle, Mark J., Larner, A.J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919433/
https://www.ncbi.nlm.nih.gov/pubmed/24516410
http://dx.doi.org/10.1159/000357518