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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
(2016-04)
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
(2018-11-13)
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
(2016)
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 ...
Diagnóstico molecular de ataxias espinocerebelosas: reporte del primer caso de ataxia espinocerebelosa tipo 3 (SCA3) en Costa Rica confirmado por análisis molecular
Molecular diagnosis of spinocerebellar ataxias: report of the first case of spinocerebellar ataxia type 3 (SCA3) in Costa Rica confirmed by molecular analysis
(2017)
Antecedentes. Las ataxias hereditarias son un grupo de trastornos
genéticos caracterizados por descoordinación progresiva de la
marcha, a menudo asociada con una pobre coordinación de las
manos, el habla y los movimientos ...