CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76

BACKGROUND: Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms. SPG11 gene is the most common cause of autosomal recessive HSP. We report a case of autosomal recessive spastic...

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Detalles Bibliográficos
Autores principales: Garcia-Berlanga, Jesus Eduardo, Moscovich, Mariana, Palacios, Isaac Jair, Banegas-Lagos, Alejandro, Rojas-Martinez, Augusto, Martinez-Ramirez, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6634065/
https://www.ncbi.nlm.nih.gov/pubmed/31355030
http://dx.doi.org/10.1155/2019/7615605

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