A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Hereditary Spastic Paraplegia (HSP) is a clinically and genetically heterogeneous group of neurological disorders that are characterized by progressive spasticity of the lower extremities. We describe an extended consanguineous Saudi family in which HSP is linked to SPG18, a previously reported auto...

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Detalles Bibliográficos
Autores principales: Alazami, Anas M., Adly, Nouran, Al Dhalaan, Hisham, Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2011
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215864/
https://www.ncbi.nlm.nih.gov/pubmed/21796390
http://dx.doi.org/10.1007/s10048-011-0291-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215864/
https://www.ncbi.nlm.nih.gov/pubmed/21796390
http://dx.doi.org/10.1007/s10048-011-0291-8

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