N. Vincent et al., LONG-TERM CORRECTION OF MOUSE DYSTROPHIC DEGENERATION BY ADENOVIRUS-MEDIATED TRANSFER OF A MINIDYSTROPHIN GENE, Nature genetics, 5(2), 1993, pp. 130-134
Duchenne muscular dystrophy (DMD) is a fatal progressive X-linked musc
le disorder, caused by mutations in the dystrophin gene. We have inves
tigated adenovirus-mediated transfer of a dystrophin minigene in a mut
ant mouse lacking dystrophin, the mdx mouse. We report here that six m
onths after a single intramuscular injection of a recombinant adenovir
us containing a human dystrophin minigene, a large number of dystrophi
n-positive fibres are still detected in the injected muscles. Moreover
, although the minigene encodes a truncated protein, its expression is
able to protect the fibres efficiently against the degeneration proce
ss that affects the dystrophin-deficient mdx myofibres.