DISTROFIA MUSCULAR DE BECKER FISIOPATOLOGIA PDF

La distrofia muscular miotónica (MMD, por una forma de distrofia muscular. Al . pueden atenuarse con tratamiento médico. Distrofia muscular de Becker. Tratamiento y atención de la distrofia muscular de Duchenne o de Becker (link to new treatment page). Cómo se hereda la distrofia muscular. Muchos niños afectados por la distrofia muscular de Becker tienen vaya avanzando la enfermedad, y necesitan distintos tipos de tratamiento en cada etapa.

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Distrofia muscular (para Padres)

fisiopxtologia Oct 1 ; Br Med Bull ; Deleciones en el gen de la distrofina en 62 familias colombianas: Genotype-phenotype correlation in myotonic dystrophy. The purpose of this review is to present the progress made in this area, emphasizing, in particular, the pathophysiology and the molecular diagnosis of the disease in Colombia. Controversies about the functional dystrophin in muscle.

Los hombres y las mujeres por igual. MSc, Profesor Auxiliar, Lic. The molecular and biochemical basis of Duchenne muscular dystrophy.

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Información básica sobre la distrofia muscular

Deletion screening of the Duchenne muscular dystrophy fe via multiplex DNA amplification. The molecular basis for Duchenne versus Becker muscular dystrophy: Folia Neuropathol ; Increasing complexity of the dystrophin-associated protein complex.

The isolation of the defective gene has led to a better understanding of the disease process and has allowed an accurate diagnosis of affected patients. Tesis Pontificia Universidad Javeriana All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Mutaciones Se ha descrito una gran heterogeneidad en las mutaciones del gen de la distrofina que incluyen deleciones, duplicaciones y mutaciones puntuales Worton R, Gillard E.

Las deleciones se concentran en dos regiones del gen, que son puntos calientes o “hot spots”: Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy.

Duchenne and Becker’s muscular dystrophy is the most common form of muscle dystrophy found in children, and is caused by an absence of the protein dystrophin.

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Duchenne and Becker’s muscle dystrophy: A molecular vision

Rev Neurol ; Turner C, Hilton-Jones D. A molecular vision Claudia T.

Recommend on Facebook Tweet Share Compartir. Emery-Dreifuss muscular dystrophy – a 40 year retrospective. El gen consta de 2.

Distrofia muscular

Morphological changes in dystrophic muscle. Muscle Nerve ; An explanation for the phenotypic differences between patients bearing partial deletion of the DMD lucus. Duchenne and Becker’s muscle dystrophy.

Recent studies on oculopharyngeal muscular dystrophy in Quebec. Implications for local and regional Molecular Diagnosis Programs. An Introduction to electromyography. Las distrofias musculares son un grupo de enfermedades provocadas por defectos en los genes de una persona.