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

Autor: Ribacoba Renne, Moris Germán, de Munain Adolfo, Pascual-Pascual Samuel I, Gonzalo Juan F, Esteban Jesús, Gámez Josep, Corao Ana I, Alonso Belén, Díaz Marta, Beetz Christian, Sánchez-Ferrero Elena, Álvarez Victoria, Márquez Celedonio, Rosell Jordi, Marín Rosario, García-Barcina Maria J, del Castillo Emilia, Benito Carmen, Coto Eliecer

Publikováno v: BMC Neurology, Vol 10, Iss 1, p 89 (2010)

Abstract 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-linke

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

Autor: Alvarez V; Laboratory of Molecular Genetics -Genetic Unit, Hospital Universitario Central de Asturias, Oviedo, Spain. victoria.alvarez@sespa.princast.es, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E

Publikováno v: BMC neurology [BMC Neurol] 2010 Oct 08; Vol. 10, pp. 89. Date of Electronic Publication: 2010 Oct 08.