Becker muscular dystrophy: correlation of deletion type with clinical severity.
Open Access
- 1 April 1990
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (4) , 236-239
- https://doi.org/10.1136/jmg.27.4.236
Abstract
Molecular deletion screening with cDNA probes from the dystrophin gene was undertaken in patients with Becker muscular dystrophy from 58 separate families. Deletions were found in 41 (71%) of these families. Thirty-four (83%) of the deletions started in the same intron near the centre of the gene, and although there was no precise correlation between clinical severity and deletion pattern, the commonest deletion pattern, which was present in 49% of all deletion families, is associated with a mild phenotype.This publication has 17 references indexed in Scilit:
- The gene and its productNature, 1989
- DISTINCTION OF BECKER FROM LIMB-GIRDLE MUSCULAR DYSTROPHY BY MEANS OF DYSTROPHIN cDNA PROBESThe Lancet, 1989
- Frame-Shift Deletions in Patients with Duchenne and Becker Muscular DystrophyScience, 1988
- A deletion hot spot in the Duchenne muscular dystrophy geneGenomics, 1988
- Further studies of gene deletions that cause Duchenne and Becker muscular dystrophiesGenomics, 1988
- An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locusGenomics, 1988
- EFFECTIVE STRATEGY FOR PRENATAL PREDICTION OF DUCHENNE AND BECKER MUSCULAR DYSTROPHYThe Lancet, 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
- LOCALISATION OF GENE FOR BECKER MUSCULAR DYSTROPHYThe Lancet, 1983