Article
A new seipin-associated neurodegenerative syndrome.
Journal of medical genetics - 1 Jun 2013
Guillén-Navarro Encarna, Sánchez-Iglesias Sofía, Domingo-Jiménez Rosario, Victoria Berta, Ruiz-Riquelme Alejandro, Rábano Alberto, Loidi Lourdes, Beiras Andrés, González-Méndez Blanca, Ramos Adriana, López-González Vanesa, Ballesta-Martínez María Juliana, Garrido-Pumar Miguel, Aguiar Pablo, Ruibal Alvaro, Requena Jesús R, Araújo-Vilar David
Abstract excerpt
BACKGROUND: Seipin/BSCL2 mutations can cause type 2 congenital generalised lipodystrophy (BSCL) or dominant motor neurone diseases. Type 2 BSCL is frequently associated with some degree of intellectual impairment, but not to fatal neurodegeneration. In order to unveil the aetiology and pathogenetic mechanisms of a new neurodegenerative syndrome associated with a novel BSCL2 mutation, six children, four of them...
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