Article
Dystrophin and mutations: one gene, several proteins, multiple phenotypes.
The Lancet. Neurology - 1 Dec 2003
Muntoni Francesco, Torelli Silvia, Ferlini Alessandra
Abstract excerpt
A large and complex gene on the X chromosome encodes dystrophin. Many mutations have been described in this gene, most of which affect the expression of the muscle isoform, the best-known protein product of this locus. These mutations result in the Duchenne and Becker muscular dystrophies (DMD and BMD). However, there are several other tissue specific isoforms of dystrophin, some exclusively or predominantly...
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