Buscar
Mostrando ítems 1-4 de 4
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 ...
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 ...
Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1
(European Journal of Human Genetics p.1-8, 2014-07-23)
Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat (g.17294_17296(45_1000)) with more repeats associated with increased disease severity and reduced age at onset. Expanded disease-associated ...
Estudios genético-moleculares de miotonías hereditarias en la población costarricense
Molecular-genetic studies of inherited myotonic conditions in Costa Rica
(2022-01)
Introducción: las miotonías hereditarias son enfermedades del músculo esquelético, clínica y genéticamente heterogéneas, caracterizadas por presentar miotonía (retraso en la relajación muscular). Se dividen en distróficas ...