Article
The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries.
Archives of neurology - 1 Feb 2004
Kirschner Janbernd, Bönnemann Carsten G
Abstract excerpt
During the past decade, outstanding progress in the areas of congenital and limb-girdle muscular dystrophies has led to staggering clinical and genetic complexity. With the identification of an increasing number of genetic defects, individual entities have come into sharper focus and new pathogenic mechanisms for muscular dystrophies, like defects of posttranslational O-linked glycosylation, have been discovered....
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