Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

BACKGROUND: Hereditary Spastic Paraplegias (HSP) are characterized by progressive spasticity and weakness of the lower limbs. At least 45 loci have been identified in families with autosomal dominant (AD), autosomal recessive (AR), or X-linked hereditary patterns. Mutations in the SPAST (SPG4) and A...

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Detaylı Bibliyografya
Asıl Yazarlar: Álvarez, Victoria, Sánchez-Ferrero, Elena, Beetz, Christian, Díaz, Marta, Alonso, Belén, Corao, Ana I, Gámez, Josep, Esteban, Jesús, Gonzalo, Juan F, Pascual-Pascual, Samuel I, de Munain, Adolfo López, Moris, Germán, Ribacoba, Renne, Márquez, Celedonio, Rosell, Jordi, Marín, Rosario, García-Barcina, Maria J, del Castillo, Emilia, Benito, Carmen, Coto, Eliecer
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2010
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2964648/
https://ncbi.nlm.nih.gov/pubmed/20932283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-10-89
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