Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies

Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked, recessive muscle-wasting disorder affecting 1 in 3 500 live male births worldwide, for which only palliative care is available to date. Large exonic deletions or duplications are found in approximately 70% of DMD patients, for which diagnostic testing is available. The remaining 30% carry point mutations, which go largely undetected, as no testing is currently offered due to the great size of the DMD gene and the logistical challenges involved.

Grantor dc:publisher.institution

Department of Medicine

Year dc:date.issued

2010

Author dc:creator

• Esterhuizen, Alina

Advisor dc:contributor.advisor

• Goliath, Rene

Language dc:language.iso

eng

Handle dc:identifier.uri

http://hdl.handle.net/11427/10465

OAI identifier oai:identifier

oai:open.uct.ac.za:11427/10465