Article
Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration.
Clinical genetics - 1 Mar 2015
Morales-Briceño H, Chacón-Camacho O F, Pérez-González E A, Arteaga-Vázquez J, Rodríguez-Violante M, Cervantes-Arriaga A, Pérez-Rodríguez L, Zenteno J C, Mutchinick O M
Abstract excerpt
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by iron accumulation in the brain, because of mutations in the PANK2 gene. Phenotypic and genotypic characteristics of 11 patients from five Mexican families with PKAN disease are reported. Sequencing of PANK2 confirmed the diagnosis. The 11 patients had dysarthria associated with dystonia and Parkinsonism in...
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