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Acta Medica Colombiana

Print version ISSN 0120-2448

Abstract

SILVA, Claudia T et al. Duchenne and Becker's muscle dystrophy: A molecular vision. Acta Med Colomb [online]. 2005, vol.30, n.3, pp.112-116. ISSN 0120-2448.

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. Affected boys show signs of the disease early in life, stop walking at the beginning of the second decade, and usually die by age 20. 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.

Keywords : Duchenne; Becker; muscular dystrophy; dystrophin diagnosis.

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