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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

Puni tekst: hrvatski pdf 1.716 Kb

str. 41-44

preuzimanja: 316


Puni tekst: engleski pdf 1.716 Kb

str. 41-44

preuzimanja: 1.274



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

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Podaci na drugim jezicima: hrvatski

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