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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


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Full text: english pdf 1.716 Kb

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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

https://hrcak.srce.hr/190678

Article data in other languages: croatian

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