Cargando…

A case report of SPG11 mutations in a Chinese ARHSP-TCC family

BACKGROUND: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by mental retardation. Mutations...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Linwei, McFarland, Karen N., Jiao, Jinsong, Jiao, Yujuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891852/
https://www.ncbi.nlm.nih.gov/pubmed/27256065
http://dx.doi.org/10.1186/s12883-016-0604-5