ALDOLASA SERICA PDF

Uploaded by. AniUgartCordova · Regulacion Del Ph – Amortiguadores. Uploaded by. AniUgartCordova · Variabilidad Biologica de Aldolasa Serica. Uploaded by. Variabilidad biológica de aldolasa sérica: su utilidad en la interpretación de los la variabilidad biológica (VB) de Aldolasa (ALD) en individuos sanos, el índice. Con menor importancia, se puede contar con los niveles séricos elevados de aldolasa sérica y deshidrogenasa láctica (LDH). La electromiografía (EMG).

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Distrofia muscular de Duchenne y Becker. Duchenne and Becker’s muscle dystrophy. MSc, Profesor Auxiliar, Lic. Duchenne and Becker’s muscular dystrophy is the most common form of muscle dystrophy found in children, and is caused by aldoalsa absence of the protein dystrophin.

Affected boys show signs of the disease early in life, stop walking at the beginning of the second decade, and usually die by age 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.

Moreover, genetic counseling and pre-natal diagnosis, together with the application of new therapies based on the knowledge of the disease’s pathogenesis, are now a possibility. 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.

Duchenne and Becker’s muscle dystrophy: A molecular vision

Duchenne, Becker, muscular dystrophy, dystrophin diagnosis. Tanto la DMD como la DMB presentan gran heterogeneidad de mutaciones en el gen de la distrofina, localizado en el brazo corto del cromosoma X, en la banda Xp21 2, 3 Figura 1. El gen consta de 2. Hay valores elevados de CPK entre los 14 y 22 meses de edad que luego tienden a disminuir, pero siempre se conservan por encima de los valores normales.

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Se ha descrito una gran heterogeneidad en seriica mutaciones del gen de la distrofina que incluyen deleciones, duplicaciones y mutaciones puntuales Las deleciones se concentran en dos regiones del gen, que son puntos calientes o “hot spots”: Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genetics ; Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosumn and McLeod syndrome.

Am J Hum Genet alcolasa The molecular and biochemical basis of Duchenne muscular dystrophy. Trends Biochem Sci ; Muscle Nerve ; Genome Biol ; 2: Rev Neurol ; An Introduction to electromyography.

Scandinavian University Books; Morphological changes in dystrophic muscle. A,dolasa Med Bull ; Controversies about the functional dystrophin in muscle. Folia Neuropathol ; The Duchenne muscular dystrophy gene product is localized in the sarcolemma of human skeletal muscle.

Dystroglycan and muscular dystrophies related to the dystrophin-glycoprotein Complex.

Ann Ist Super Sanita ; An explanation for the phenotypic differences between patients bearing partial deletion of the DMD lucus. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.

Variabilidad biológica de aldolasa sérica: su utilidad en la interpretación de los resultados

Worton R, Gillard E. Boston Blackwell Scientific Publications. The complete sequence of dystrophin predicts a rod-shaped cytoeskeletal protein. Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than Kb Upstream of the nearest known promoter.

J Clin Invest ; Tesis Pontificia Universidad Javeriana Topography of the Duchenne muscular dystrophy DMD gene: Deleciones en el gen de la distrofina en 62 familias colombianas: Colomb Med ; Informe de casos de distrofia muscular de Duchenne y Becker.

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Carrier detection in Duchenne and Becker muscular dystrophy Argentine families. Clin Genet ; Clin Invest alfolasa Implications for local and werica Molecular Diagnosis Programs. Hum Mutat ; Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients.

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Am J Med Genet ; Direct diagnosis of carriers of point mutations in Duchenne muscular dystrophy. The Lancet aldolsaa The molecular basis for Duchenne versus Becker muscular dystrophy: Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Increasing complexity of the dystrophin-associated protein complex.

Amplification of ten deletion-rich exons of the dystrophin gene by aldollasa chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy. A guide to Methods and Applications. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acid Res; Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem ; Services on Demand Article. Spanish pdf Article in xml format Article references How to cite this article Automatic translation Send this article by e-mail.

A molecular vision Claudia T. Abstract Duchenne and Becker’s muscular alvolasa is the most common form of muscle dystrophy found seerica children, and is caused by an absence of the protein dystrophin. Mutaciones Se ha descrito una gran heterogeneidad en las mutaciones del gen de la distrofina que incluyen deleciones, duplicaciones y mutaciones puntuales All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Carrera 16 A No. How to cite this article.

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