Patricia Cuenca

Learn More
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm the clinical diagnosis of a family diagnosed with a myotonic condition many years ago and report a new mutation in the CLCN1 gene. The(More)
Alterations in the monoaminergic neurotransmission systems are suspected to be involved in the etiology of neuropsychiatric disorders, including depression. The role of these pathways in the risk of developing depressive symptoms during childhood or adolescence is still not completely clear. This study sought to identify putative genetic factors in genes of(More)
Visual function may be studied in experimental animals for different purposes, such as visual system basic research, functional role of new genes, animal selection for behavioral tests and search for new therapies of visual deficits, among others. In our laboratory, we use electrophysiological test in order to full check different aspects of the visual(More)
  • 1