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

Master Thesis

2010

Permanent link to this Item
http://hdl.handle.net/11427/10465
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thesis_hsf_2010_esterhuizen_a.pdf (3.6 MB)
Authors
Esterhuizen, Alina
Supervisors
Goliath, Rene
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University of Cape Town

Department
Department of Medicine
Faculty
Faculty of Health Sciences
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Abstract
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.
Description

Includes bibliographical references (leaves 97-115).

Keywords
Medicine

Reference:

Esterhuizen, A. 2010. Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies. University of Cape Town.

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Masters