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Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent
(2021)
Myotonic dystrophy type 1 (DM1) is a complex disease with a wide spectrum of symptoms. The exact relationship between
mutant CTG repeat expansion size and clinical outcome remains unclear. DM1 congenital patients (CDM) ...
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 ...
Reduced current density and surface expression of a CLCN1 mutation causing dominant or recessive myotonia in Costa Rica
(2014)
Mutations in CLCN1 coding for the muscle ClC-1 Cl- channel lead to dominant (Thomsen's disease) of recessive (Becker's disease) myotonia. Here we characterized several CLCN1 mutations identified in Costa Rica myotonia ...
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.
(2021)
Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1
chloride channel or gain-of-function mutations in the Nav1.4 sodium channel. Here, we describe
a family with members diagnosed with ...
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, ...
Diagnóstico de transtornos del movimiento con fenotipos similares a la enfermedad de Huntington
(2020)
Introducción y objetivos: La enfermedad de Huntington (HD) es la enfermedad neurodegenerativa hereditaria más frecuente, causada por una expansión inestable de la repetición CAG en el gen HTT. Se caracteriza por trastornos ...
Enfermedad de Huntington infantil: reporte del primer caso en Costa Rica confirmado por análisis molecular
Infantile Huntington`s disease: first case in Costa Rica confirmed by molecular genetic analysis
(2016)
La enfermedad de Huntington (HD, por sus siglas
en inglés) es una enfermedad neurodegenerativa
progresiva, con una prevalencia en la población
caucásica de 10.6-13.7 casos por 100 000 habitantes.
La prevalencia de la ...
Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset
(2020-06-30)
In myotonic dystrophy type 1 (DM1), somatic mosaicism of the (CTG)n repeat expansion is age-dependent, tissue-specific and expansion-biased. These features contribute toward variation in disease severity and confound ...
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 ...