Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
J Chelly, H Gilgenkrantz, M Lambert, G Hamard… - Cell, 1990 - cell.com
J Chelly, H Gilgenkrantz, M Lambert, G Hamard, P Chafey, D Récan, P Katz…
Cell, 1990•cell.comMuscle dystrophin mRNAs from Duchenne (DMD) and Becker (BMD) patients with internal
deletion of the DMD gene were quantitated and sequenced. In all cases (eight DMD and
three BMD), truncated mature transcripts were found, and their amount was correlated to the
clinical phenotype and to the reading frame. We focused on four cases that were apparently
not in agreement with the reading frame rule. In two DMD casds, slightly reduced amounts of
in-frame truncated mRNA are present but no dystrophin is detected, suggesting impaired …
deletion of the DMD gene were quantitated and sequenced. In all cases (eight DMD and
three BMD), truncated mature transcripts were found, and their amount was correlated to the
clinical phenotype and to the reading frame. We focused on four cases that were apparently
not in agreement with the reading frame rule. In two DMD casds, slightly reduced amounts of
in-frame truncated mRNA are present but no dystrophin is detected, suggesting impaired …
Muscle dystrophin mRNAs from Duchenne (DMD) and Becker (BMD) patients with internal deletion of the DMD gene were quantitated and sequenced. In all cases (eight DMD and three BMD), truncated mature transcripts were found, and their amount was correlated to the clinical phenotype and to the reading frame. We focused on four cases that were apparently not in agreement with the reading frame rule. In two DMD casds, slightly reduced amounts of in-frame truncated mRNA are present but no dystrophin is detected, suggesting impaired translation and/or instability of the protein. In two BYD patients with outof-frame deletions, the presence of minor in-frame alternatively spliced mRNA species Is congruent with the observed truncated dystrophin and the mild phenotype.
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