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Becker muscular dystrophy: correlation of deletion type with clinical severity.

Authors :
Norman AM
Thomas NS
Kingston HM
Harper PS
Source :
Journal of medical genetics [J Med Genet] 1990 Apr; Vol. 27 (4), pp. 236-9.
Publication Year :
1990

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.

Details

Language :
English
ISSN :
0022-2593
Volume :
27
Issue :
4
Database :
MEDLINE
Journal :
Journal of medical genetics
Publication Type :
Academic Journal
Accession number :
2325103
Full Text :
https://doi.org/10.1136/jmg.27.4.236