Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy
- 1 May 1994
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 93 (5), 541-544
- https://doi.org/10.1007/bf00202820
Abstract
The family of a male with Duchenne muscular dystrophy (DMD) and a deletion within the dystrophin gene has been studied. Polymerase chain reaction analysis of ectopic mRNA from peripheral blood T+B lymphocytes and the use of (CA) n repeat polymorphisms in and around the deleted region showed the proband's mother to be both a germline mosaic and a somatic mosaic for the deletion seen in her son. The mutation therefore occurred as a mitotic event early in embryogenesis.Keywords
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