A ptg variant contributes to a milder phenotype in lafora disease

HIGHLIGHTS

• who: Rosa Guerrero and collaborators from the Unidad Trastornos del Movimiento, Servicio Neurologı́a y Neurofisiologı́a Clı́nica, Instituto Biomedicina Sevilla (IBiS), Sevilla, Spain, University of Bologna have published the paper: A PTG Variant Contributes to a Milder Phenotype in Lafora Disease, in the Journal: (JOURNAL) of June/30,/2011
• what: The authors aimed to identify modifier genes that may contribute to the clinical course of Lafora disease patients with EPM2A or EPM2B mutations. The authors report a new mutation (c.746A.G N249S) in the PPP1R3C gene that results in a decreased capacity . . .
  

   

  

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