ADDITIONAL TECHNIQUES FOR THE MOLECULAR DIAGNOSIS OF THE DUCHENNE/BECKER MUSCULAR DYSTROPHY

Abstract
Duchenne/ Becker Muscular Dystrophies (DMD/B) are the most frequent myopathies. They are estimated to affect 1:3500 newborn males. They are X-linked recessive diseases. The DMD gene is located in the short arm of the X chromosome. It is the biggest gene described. This fact makes it vulnerable to an increasing number of mutations, among which deletions are the most frequent, although duplications and insertions can also be found. There are several molecular techniques which are very useful for the diagnosis of these diseases. This article describes other molecular techniques which have demonstrated to be useful in the molecular diagnosis of DMD/B, as well as some aspects related to gene therapy.

Key words
Duchenne muscular dystrophy, Becker muscular dystrophy, DMD gene, deletion, therapy.

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