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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 ...
Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion
(Nucleic Acids Research 42(11) p. 7047–7056, 2014-05-01)
Genetically unstable expanded CAG·CTG trinucleotide repeats are causal in a number of human disorders, including Huntington disease and myotonic dystrophy type 1. It is still widely assumed that DNA polymerase slippage ...
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 ...
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 ...
Aspectos genéticos y moleculares de las enfermedades miotónicas
Molecular and genetic aspects of the myotonic conditions
(Revista de Neurología 38 (7) p 668-674, 2004)
Aim. The aim is to review the molecular and genetic aspects of the dystrophic and no-dystrophic myotonias. Background.
Myotonic diseases are hereditary conditions of the skeletal muscle, classified in two groups depending ...
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 ...
La biología molecular como herramienta para mejorar la calidad de vida. Experiencia con enfermedades hereditarias incapacitantes
(1999)
Entre las mutaciones a nivel molecular responsables de causar enfermedades genéticas en el ser humano, tradicionalmente se conocían: 1.- cambios de un nucleótido por otro. 2.- pérdida de uno o varios nucleótidos. 3.- ...
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 ...
Las mutaciones inestables, nuevo reto para el consejo genético de enfermedades hereditarias
Unstable mutations, new challenges for genetic counseling of inherited disorders
(Revista de Biología Tropical 52 (3) 491-499, 2004)
Las mutaciones inestables constituyen un tipo de alteración genética descubierta en Ia década de los noventa. En condiciones normales, regiones especificas de los genes estan constitudas por repeticiones de una aucencia ...
Diagnóstico directo de la mutación que causa el síndrome del cromosoma X frágil. Experiencia en Costa Rica.
(Acta Medica Costarricense 44 (1):27-33, 2002)
Justificación y objetivo: el síndrome del cromosoma X frágil es la principal causa de retardo mental hereditario.
Afecta a 1:4 000 varones y a 1:6 000 mujeres. La mayoría de las personas afectadas aún no han sido ...