Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia

Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome seq...

Descripción completa

Detalles Bibliográficos
Autores principales: Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344291/
https://www.ncbi.nlm.nih.gov/pubmed/30337681
http://dx.doi.org/10.1038/s10038-018-0523-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344291/
https://www.ncbi.nlm.nih.gov/pubmed/30337681
http://dx.doi.org/10.1038/s10038-018-0523-y

Ejemplares similares