Cargando…
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...
Autores principales: | Alazami, Anas M., Adly, Nouran, Al Dhalaan, Hisham, Alkuraya, Fowzan S. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2011
|
Materias: | |
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 |
Ejemplares similares
-
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia
por: Regensburger, Martin, et al.
Publicado: (2022) -
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
por: Renvoisé, Benoît, et al.
Publicado: (2014) -
Multigeneration family with dominant SPG30 hereditary spastic paraplegia
por: Roda, Ricardo H., et al.
Publicado: (2017) -
Clinical analysis in patients with SPG11 hereditary spastic paraplegia
por: Kang, You-Ri, et al.
Publicado: (2023) -
Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15
por: Hirst, Jennifer, et al.
Publicado: (2013)