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Expanded phenotype in a patient with spastic paraplegia 7

Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the di...

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Detalles Bibliográficos
Autores principales: Gass, Jennifer, Blackburn, Patrick R., Jackson, Jessica, Macklin, Sarah, van Gerpen, Jay, Atwal, Paldeep S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628248/
https://www.ncbi.nlm.nih.gov/pubmed/29026558
http://dx.doi.org/10.1002/ccr3.1109