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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Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2010
Fag:
Research Article
Online adgang: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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