Pregledni rad
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
Sažetak
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.
Ključne riječi
Dystrophin, Duchenne and Becker muscular dystrophy, Area of Xp2l.2-locus
Hrčak ID:
190678
URI
Posjeta: 1.596 *