Carrier detection in Duchenne muscular dystrophy

The identification of apparently healthy carriers of the lethal, X- linked gene for Duchenne muscular dystrophy (DMD) is of importance for genetic counselling purposes. At present the accepted most reliable test for determining DMD carrier status is the estimation of serum creatine kinase activity. However, approximately one third of genetic carriers remain undetected by this method. This study was designed to evaluate other possible methods of DMD heterozygote recognition with a view to improving the carrier detection rate.

Grantor dc:publisher

The University of Edinburgh

Year dc:date.issued

1984

Author dc:creator

• Freeman, Lesley Carolyn

Handle dc:identifier.uri

http://hdl.handle.net/1842/28069

OAI identifier oai:identifier

oai:era.ed.ac.uk:1842/28069