NDLI: The Congenital and Limb-Girdle Muscular Dystrophies: Sharpening the Focus, Blurring the Boundaries

Content Provider	JAMA Network
Author	Kirschner, Janbernd Bönnemann, Carsten G.
Copyright Year	2004
Abstract	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. At the same time, this progress blurs the traditional boundaries between the categories of congenital and limb-girdle muscular dystrophies, as well as between limb-girdle muscular dystrophies and other clinical entities, as mutations in genes such as fukutin-related protein, dysferlin, caveolin-3 and lamin A/ C can cause a striking variety of phenotypes. We reviewed the different groups of proteins currently recognized as being involved in congenital and limb-girdle muscular dystrophies, associated them with the clinical phenotypes, and determined some clinical and molecular clues that are helpful in the diagnostic approach to these patients.
Ending Page	199
Starting Page	189
Page Count	11
File Format	PDF HTM / HTML
ISSN	00039942
DOI	10.1001/archneur.61.2.189
Issue Number	2
Journal	Archives of Neurology
Volume Number	61
Language	English
Publisher	American Medical Association
Publisher Date	2004-02-01
Access Restriction	Open
Subject Keyword	phenotype muscular dystrophies mutation limb girdle muscular dystrophy blurry vision lamin type a dysferlin genes caveolins fktn gene glycosylation genetics
Content Type	Text
Resource Type	Article
Subject	1200/1201 Neurology (clinical)

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