Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs with or without additional neurological symptoms. Although more than 70 genes and genetic loci have been implicated in HSP, many families remain genet...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Gan-Or, Ziv, Bouslam, Naima, Birouk, Nazha, Lissouba, Alexandra, Chambers, Daniel B., Vérièpe, Julie, Androschuck, Alaura, Laurent, Sandra B., Rochefort, Daniel, Spiegelman, Dan, Dionne-Laporte, Alexandre, Szuto, Anna, Liao, Meijiang, Figlewicz, Denise A., Bouhouche, Ahmed, Benomar, Ali, Yahyaoui, Mohamed, Ouazzani, Reda, Yoon, Grace, Dupré, Nicolas, Suchowersky, Oksana, Bolduc, Francois V., Parker, J. Alex, Dion, Patrick A., Drapeau, Pierre, Rouleau, Guy A., Bencheikh, Bouchra Ouled Amar
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2016
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Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4863665/
https://ncbi.nlm.nih.gov/pubmed/27153400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.04.002
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