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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Vydáno v:Case Rep Neurol Med
Hlavní autoři: Garcia-Berlanga, Jesus Eduardo, Moscovich, Mariana, Palacios, Isaac Jair, Banegas-Lagos, Alejandro, Rojas-Martinez, Augusto, Martinez-Ramirez, Daniel
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6634065/
https://ncbi.nlm.nih.gov/pubmed/31355030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/7615605
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