Extract
Despite recent research developments, Duchenne muscular dystrophy remains a
fatal neuromuscular disease, affecting two to three boys in 10,000. It is an
inherited X-linked recessive condition caused by a frame-shift mutation in the
dystrophin gene at the Xp21.2 locus of the X
chromosome1.
Dystrophin is a large cell-membrane protein involved in calcium transport in
the muscle cell. Boys with Duchenne muscular dystrophy have an absolute
absence of dystrophin, leading to deterioration of the muscle cells and
replacement with fibrofatty
tissue2. This is in
contrast to Becker muscular dystrophy, in which less disruptive mutations that
do not result in a frame shift lead to production of variable amounts of a
smaller, genetically abnormal dystrophin
protein3,4.