Two distinct mutations in a single dystrophin gene: Chance occurrence or premutation?
- 1 March 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 42 (5), 688-692
- https://doi.org/10.1002/ajmg.1320420512
Abstract
We report on a kindred segregating 2 distinct mutations of a dystrophin gene. DNA analysis showed that the second mutation, a deletion, arose in the same gene carrying the primary defect which produced a Becker phenotype in the affected males. The DNA data for this family are reported and the alternative explanations of chance occurrence and premutation are discussed to explain these unusual findings.Keywords
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