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Muscular dystrophy (MD)

An inherited disorder that affects skeletal muscle structures when muscle cells are progressively destroyed and replaced with fat tissue.


A genetic disease caused by a defect in the X chromosome; first recognized by G. A. B. Duchenne in 1858. Afflicts males almost exclusively because males have only one X chromosome, whereas females inherit two copies of the X chromosome and have a backup in case one X chromosome is damaged (as is the case for MD victims). In 1981, Kay E. Davies used DNA probes (genetic probes) to discover that the Duchenne muscular dystrophy (DMD) gene must lie somewhere between two unique (to MD victims) segments on the upper, shorter arm of the X chromosome.


 

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