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. 1992 Sep;51(3):562–570.

Dystrophin in frameshift deletion patients with Becker muscular dystrophy.

S B Gangopadhyay 1, T G Sherratt 1, J Z Heckmatt 1, V Dubowitz 1, G Miller 1, M Shokeir 1, P N Ray 1, P N Strong 1, R G Worton 1
PMCID: PMC1682710  PMID: 1496988

Abstract

In a previous study we identified 14 cases with Duchenne muscular dystrophy (DMD) or its milder variant, Becker muscular dystrophy (BMD), with a deletion of exons 3-7, a deletion that would be expected to shift the translational reading frame of the mRNA and give a severe phenotype. We have examined dystrophin and its mRNA from muscle biopsies of seven cases with either mild or intermediate phenotypes. In all cases we detected slightly lower-molecular-weight dystrophin in 12%-15% abudance relative to the normal. By sequencing amplified mRNA we have found that exon 2 is spliced to exon 8, a splice that produces a frameshifted mRNA, and have found no evidence for alternative splicing that might be involved in restoration of dystrophin mRNA reading frame in the patients with a mild phenotype. Other transcriptional and posttranscriptional mechanisms such as cryptic promoter, ribosomal frameshifting, and reinitiation are suggested that might play some role in restoring the reading frame.

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