Summary
A total of 56 Duchenne muscular dystrophy (DMD) patients and 11 Becker muscular dystrophy (BMD) patients was analyzed by extended “multiplex” amplification of the DMD/BMD gene; deletions were found in 60% of these patients. The data obtained were used to test the frameshift hypothesis and to compare the distribution of familial versus isolated cases. A significant correlation was found between deletions and isolated cases. Additional experiments were performed in order to determine the deletion breakpoints more precisely. These data are a prerequisite for carrier analysis in the respective families by detection or exclusion of aberrant cDNA fragments derived from ectopic lymphocyte RNA. This diagnostic technique is illustrated by 5 examples.
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Niemann-Seyde, S., Slomski, R., Rininsland, F. et al. Molecular genetic analysis of 67 patients with duchenne/becker muscular dystrophy. Hum Genet 90, 65–70 (1992). https://doi.org/10.1007/BF00210746
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DOI: https://doi.org/10.1007/BF00210746