Review article
Clinical expression of Duchenne and Becker muscular dystrophy with respect to manifestation in the area of Xp21.2 - locus which codifies dystrophin synthesis
Silvija Pušeljić
Vesna Milas
Mirna Sipl
Ivo Pušeljić
Abstract
The role of dystrophin in various clinical presentations of muscular dystrophy is described. Dystrophin is a very complex protein, and the gene coding its synthesis is one of the largest ones in the human genome, occupying about 1 percent of the X-chromosome. Deletions, duplications or point mutations of this huge gene may result in various clinical manifestations ranging from mild muscular fatigue to lethal forms of Duchenne muscular dystrophy.
Keywords
Dystrophin; Duchenne and Becker muscular dystrophy; Area of Xp2l.2-locus
Hrčak ID:
190678
URI
Publication date:
1.12.2002.
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