Screening of Dystrophin Gene Deletions in Egyptian Patients with DMD/BMD Muscular Dystrophies
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چکیده
منابع مشابه
Screening of Dystrophin Gene Deletions in Egyptian Patients with DMD/BMD Muscular Dystrophies
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations within the dystrophin gene. Our study has identified 100 Egyptian families collected from the Human Genetics Clinic, National Research Center, Cairo. All cases were subjected to complete clinical evaluation pedigree analysis, electromyography studies, estimation of serum creatine phos...
متن کاملScreening of dystrophin gene deletions in Malaysian patients with Duchenne muscular dystrophy.
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive genetic disorder characterized by rapidly progressive muscle weakness. The disease is caused by deletion, duplication or point mutation of the dystrophin gene, located on the X chromosome (Xp21). Deletion accounts for 60% of the mutations within the 79 exons of the dystrophin gene. Seven exons (43, 44, 45, 46, 49, 50, and 51) were found...
متن کاملDystroglycan and muscular dystrophies related to the dystrophin-glycoprotein complex.
Dystroglycan (DG) is an adhesion molecule composed of two subunits, alpha and beta, that are produced by the post-translational cleavage of a single precursor molecule. DG is a pivotal component of the dystrophin-glycoprotein complex (DGC), which connects the extracellular matrix to the cytoskeleton in skeletal muscle and many other tissues. Some muscular dystrophies are caused by mutations of ...
متن کاملScreening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115.
We have analysed 38 DMD patients from 34 families and 30 BMD patients from 12 families using the cDNA probes Cf23a and Cf56a, which map near the centre of the dystrophin gene, and Cf115, which is close to the 3' end of this gene. Together, probes Cf23a and Cf56a detected deletions in 50% of the DMD families and 33% of the BMD families. Probe Cf115 detected a deletion in only one DMD patient, wh...
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ژورنال
عنوان ژورنال: Disease Markers
سال: 2000
ISSN: 0278-0240,1875-8630
DOI: 10.1155/2000/437372