Louis M. Kunkel

Discovered, by positional cloning, the gene altered in the common sex-linked Becker/Duchenne muscular dystrophy. Described the muscle protein, dystrophin, which is diminished or defective in the muscular dystrophies. Biochemical purification of dystrophin from muscle led to the identification of additonal proteins altered in other forms of dystrophy. Has shown that adult muscle progenitor cells are able to systematically deliver cystrophin to diseased muscle. Work has improved diagnosis and led to rational approaches to therapy of dystrophy.