Researchers trace effects of genetic defect in myotonic muscular dystrophy

Sunday, January 24, 2010 - 15:28 in Biology & Nature

Research on the genetic defect that causes myotonic muscular dystrophy has revealed that the mutation disrupts an array of metabolic pathways in muscle cells through its effects on two key proteins. A study published in Nature Structural & Molecular Biology shows that the loss of a single protein accounts for most of the molecular abnormalities associated with the disease, while loss of a second protein also seems to play an important role.

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