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Carrier Diagnosis of Duchenne Muscular Dystrophy Using Fluorescent CA Repeat Polymorphism

✍ Scribed by Yoshiko SHIROSHITA; Susumu KATAYAMA


Book ID
111300631
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
415 KB
Volume
37
Category
Article
ISSN
0914-3505

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Duchenne/becker muscular dystrophy carri
✍ Mansfield, Elaine S. ;Robertson, James M. ;Lebo, Roger V. ;Lucero, Micheal Y. ;M πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 969 KB

Dystrophin gene deletions account for up to 68% of all Duchenne (DMD) and Becker (BMD) muscular dystrophy mutations. In affected males, these deletions can be detected easily using multiplex PCR tests which monitor for exon presence. In addition, quantitative dosage screening can discriminate female