Article
Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.
Journal of neurology - 1 Feb 2012
Sánchez-Ferrero Elena, Coto Eliecer, Corao Ana I, Díaz Marta, Gámez Josep, Esteban Jesús, Gonzalo Juan F, Pascual-Pascual Samuel I, López De Munaín Adolfo, Morís Germán, Infante Jon, Del Castillo Emilia, Márquez Celedonio, Alvarez Victoria
Abstract excerpt
Mitochondrial dysfunction could contribute to the development of spastic paraplegia. Among others, two of the genes implicated in hereditary spastic paraplegia encoded mitochondrial proteins and some of the clinical features frequently found in these patients resemble those observed in patients with mitochondrial DNA (mtDNA) mutations. We investigated the association between common mtDNA polymorphisms and spastic...
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