Buscar
Mostrando ítems 1-10 de 31
High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations
(Human Molecular Genetics, 2012, Vol. 21, No. 11 2450–2463, 2012-02-24)
Several human genetic diseases are associated with inheriting an abnormally large unstable DNA simple sequence
repeat. These sequences mutate, by changing the number of repeats, many times during the lifetime
of those ...
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) ...
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 ...
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 ...
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 ...
Dyslipidemia in muscular dystrophy: A systematic review and meta-analysis
(2023)
Background: Muscular dystrophies (MDs) are characterized by chronic muscle wasting but also poorly understood metabolic
co-morbidities. We have recently shown that Duchenne MD (DMD) patients, dogs and asymptomatic carriers ...
Aspectos genéticos y moleculares de la distrofia miotónica
Molecular and genetic aspects of myotonic dystrophy
(1999)
Mvotonic Dystrophy is a multisystemic illness which affects several tissues such as the muscle, the brain and some endocrine tissues. It presents a dominant of autosomic inheritance with incomplete penetrance and variable ...
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 ...