Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies.

Abstract

Proteins of the sarcolemma are of crucial importance for the pathogenesis of muscular dystrophies. This update focuses on the dystrophin-associated proteins including the dystroglycan and sarcoglycan complexes, caveolin-3, dysferlin, and the extracellular matrix component collagen type VI. The molecular findings are correlated with some of the clinical phenotypes that are part of the limb-girdle muscular dystrophy spectrum, including fukutin-related proteinopathy (LGMD 21), the sarcoglycanopathies (LGMD 2C-F), caveolinopathy (LGMD 1C), dysferlinopathy (LGMD 2B), and finally Bethlem myopathy. Although recent progress has been tremendous, much remains to be learned about the pathophysiological consequences caused by a deficiency of any one of these components.

• Authors: Carsten G Bönnemann, Richard S Finkel
• Journal: Seminars in pediatric neurology (Semin Pediatr Neurol) Vol. 9 Issue 2 Pg. 81-99 (Jun 2002) ISSN: 1071-9091 [Print] United States
• PMID: 12139001 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Caveolin 3
• Caveolins
• Collagen Type VI
• Cytoskeletal Proteins
• DAG1 protein, human
• DYSF protein, human
• Dysferlin
• Dystrophin-Associated Proteins
• Integrins
• Membrane Glycoproteins
• Membrane Proteins
• Muscle Proteins
• SLMAP protein, human
• Utrophin
• dystrobrevin
• syntrophin
• Dystroglycans

Topics

• Adolescent
• Atrophy (pathology)
• Caveolin 3
• Caveolins (genetics, metabolism)
• Child
• Collagen Type VI (genetics, metabolism)
• Cytoskeletal Proteins (genetics, metabolism)
• Dysferlin
• Dystroglycans
• Dystrophin-Associated Proteins
• Humans
• Integrins (genetics, metabolism)
• Membrane Glycoproteins (genetics, metabolism)
• Membrane Proteins (genetics, metabolism)
• Muscle Proteins (genetics, metabolism)
• Muscle, Skeletal (metabolism, pathology)
• Muscular Dystrophies (genetics, metabolism, pathology)
• Utrophin