Patterns of exon deletions in Duchenne and Becker muscular dystrophy
- 1 October 1988
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 80 (2) , 152-156
- https://doi.org/10.1007/bf00702859
Abstract
A panel of patients with Duchenne and Becker muscular dystrophy (DMD and BMD) has been screened with the cDNA probes Cf56a and Cf23a, which detect exons in the central part of the DMD gene. One or more exons were deleted in 60% of patients. The deletions were mapped and prove to be heterogeneous in size and extent, particularly in DMD. Deletions specific to DMD and to BMD are described. Half of all BMD patients have a deletion of one particular small group of exons; smaller deletions within this same group produce the more severe DMD.This publication has 19 references indexed in Scilit:
- Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome.Journal of Medical Genetics, 1988
- EFFECTIVE STRATEGY FOR PRENATAL PREDICTION OF DUCHENNE AND BECKER MUSCULAR DYSTROPHYThe Lancet, 1987
- A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected maleNature, 1987
- Germline mosaicism and Duchenne muscular dystrophy mutationsNature, 1987
- Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gelsNature, 1987
- Preferential deletion of exons in Duchenne and Becker muscular dystrophiesNature, 1987
- Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsCell, 1987
- A register based system for gene tracking in Duchenne muscular dystrophy.Journal of Medical Genetics, 1986
- Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophyNature, 1986
- Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segmentNature, 1985