Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy

The reading frame hypothesis has been proposed to explain the molecular basis of two allelic forms of muscular dystrophies, Duchenne/Becker muscular dystrophy (D/BMD). To evaluate the hypothesis in Indian D/BMD patients, we analyzed deletion of dystrophin exons in 147 DMD and 19 BMD patients. Our st...

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Veröffentlicht in:Neurology India 2004-02, Vol.51 (3)
1. Verfasser: Pandey GS , Kesari A, Mukherjee M, Mittal RD, Mittal B
Format: Artikel
Sprache:eng
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Zusammenfassung:The reading frame hypothesis has been proposed to explain the molecular basis of two allelic forms of muscular dystrophies, Duchenne/Becker muscular dystrophy (D/BMD). To evaluate the hypothesis in Indian D/BMD patients, we analyzed deletion of dystrophin exons in 147 DMD and 19 BMD patients. Our studies showed deviation of more than 30% from the reading frame hypothesis in DMD patients (47/147). The present results implicate a need to reevaluate the reading frame hypothesis.
ISSN:0028-3886