Now showing items 1-5 of 5
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, ...
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 ...
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 ...
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 ...