Now showing items 1-5 of 5
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
Mutations in the gene coding for the skeletal muscle Cl− channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed ...
Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene
(Revista de Biología Tropical 56(1) p.1-11, 2006-08-18)
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 ...
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients
Somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 is age-dependent, tissuespecific and expansion-biased, contributing toward the tissue-specificity and progressive nature of the symptoms. Previously, ...
Características clínicas y genético-moleculares de la enfermedad de Huntington en pacientes costarricenses: experiencia de 14 años de diagnóstico molecular
Clinical, genetic and molecular characteristics of Huntington's disease in Costa Rican patients: experience of 14 years of molecular diagnosis
Introducción: La enfermedad de Huntington (HD) es un trastorno neurodegenerativo hereditario, caracterizado por signos y síntomas motores, cognitivos y neuropsiquiátricos, causado por una expansión del trinucleótido ...
Individual differences in the immobility behavior in juvenile and adult rats are associated with monoaminergic neurotransmission and with the expression of corticotropin-releasing factor receptor 1 in the nucleus accumbens
(Behavioural Brain Research, Vol. 252. pp. 77-87, 2013)
The study of individual differences provides an important methodological approach to analyze the neurobehavioral spectrum of a given cohort in order to understand brain function and disease. Based on immobility time in ...