Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia

Complicated hereditary spastic paraplegia (HSP) presents with complex neurological and nonneurological manifestations. We report a patient with autosomal recessive (AR) HSP in whom laboratory investigations revealed hypobetalipoproteinemia raising the possibility of a shared pathophysiology of these...

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Detalles Bibliográficos
Autores principales: Peddareddygari, Leema Reddy, Grewal, Raji P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439468/
https://www.ncbi.nlm.nih.gov/pubmed/26064709
http://dx.doi.org/10.1155/2015/219691

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439468/
https://www.ncbi.nlm.nih.gov/pubmed/26064709
http://dx.doi.org/10.1155/2015/219691

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