The sarcoglycan complex in limb–girdle muscular dystrophy
- 1 October 1998
- journal article
- review article
- Published by Wolters Kluwer Health in Current Opinion in Neurology
- Vol. 11 (5), 443-452
- https://doi.org/10.1097/00019052-199810000-00006
Abstract
The involvement of the sarcoglycan complex in the pathogenesis of muscular dystrophy is becoming increasingly clear. Sarcoglycan gene mutations lead to four forms of autosomal recessive limb-girdle muscular dystrophy. Recent progress has been made with the identification of novel mutations and their correlations with disease. Through this research, a better understanding the molecular pathogenesis of limb-girdle muscular dystrophy has been gained. Finally, animal models are now being used to study viral-mediated gene transfer for the future treatment of this disease.Keywords
This publication has 94 references indexed in Scilit:
- Human ϵ‐sarcoglycan is highly related to α‐sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene1FEBS Letters, 1998
- Mutations in the δ-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)neurogenetics, 1997
- Expression of Caveolin-3 in Skeletal, Cardiac, and Smooth Muscle CellsJournal of Biological Chemistry, 1996
- Absence of γ‐sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12FEBS Letters, 1996
- Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2ACell, 1995
- Selective Defect of Sarcoglycan Complex in Severe Childhood Autosomal Recessive Muscular Dystrophy MuscleBiochemical and Biophysical Research Communications, 1994
- Defective association of dystrophin with sarcolemmal glycoproteins in the cardiomyopathic hamster heartFEBS Letters, 1993
- Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13qNature Genetics, 1992
- Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophyNature, 1992
- Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrixNature, 1992