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A Novel Dystrophin Deletion Mutation in a Becker Muscular Dystrophy Patient With Early-Onset Dilated Cardiomyopathy

✍ Scribed by Guo, Xiaoxiao; Dai, Yi; Cui, Liying; Fang, Quan


Book ID
122148720
Publisher
Pulsus Group Inc
Year
2014
Tongue
English
Weight
724 KB
Volume
30
Category
Article
ISSN
0828-282X

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Identification of a mutation in the prom
✍ Katharine M. D. Bushby; Nicola J. Cleghorn; Ann Curtis; Irene D. Haggerty; Louis πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 961 KB

We have identified 7 patients with Becker muscular dystrophy (BMD) in whom analysis of dystrophin by immunoblotting shows a full-sized molecule produced at reduced abundance compared with controls. They have no detectable deletion in their dystrophin cDNA. One patient presented atypically with unusu