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Estudio intergeneracional de la mutación que causa la distrofia miotónica de tipo 1 en Costa Rica
Intergenerational study of the mutation that causes myotonic dystrophy type 1 in Costa Rica
(Revista de Neurología 2003; 36: 20-25, 2003-01-01)
Introduction. Myotonic dystrophy type 1 is a neuromuscular, degenerative and progressive disease, with an autosomal
dominant pattern of inheritance, variable eTressivity and incomplete penetrance. The genetic defect is ...
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) ...
Diagnóstico molecular de la distrofia miotónica (DM) en Costa Rica
(Acta Medica Costarricense :43 (4) p. 159-167, 2001-10)
La Distrofia Miotónica es una enfermedad multisistémica de herencia autosómica dominante. El defecto molecular es una expansión del trinucleótido CTG presente en Ia región 3' no codificante (3' UTR) del gen DMPK, localizado ...
Distrofia Miotónica tipo 1: Fisiopatología y Avances en la Terapia Génica
Type 1 Myotonic Dystrophy: Physiopathology and Advances in Gene Therapy
(2014-12)
La distrofa miotónica tipo 1 (la
enfermedad muscular hereditaria mas
común en el adulto joven) es causada por
una expansión de la tripleta citosina-timinaguanina (CTG), la cual es inestable en las
líneas germinal y ...
Identificación de aberraciones cromosómicas en una población infantil costarricense con discapacidad intelectual idiopática
Identification of chromosomal aberrations in a Costa Rican children population with idiopathicintellectual disability
(2022-01)
La prevalencia mundial de la discapacidad intelectual (DI) es del 3 %. Una de las causas más comunes de DI de origen genético son las aberraciones cromosómicas, las cuales resultan fácilmente detectables mediante un ...
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 ...
Mutaciones inestables: causa de algunas enfermedades neurológicas hereditarias
(1999-06)
Las mutaciones inestables o amplificación de tripletas constituyen un tipo de alteración genética descubierto durante la última década. En condiciones normales, regiones específicas de algunos genes están constituidas por ...
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 ...
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
(2020-01)
Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ...