Abstract
This disorder has been recognized to be due to mutations in the SGCB gene encoding the beta-sarcoglycan protein subunit, which results in biochemical deficiency of the entire sarcoglycan protein complex. This primary defect gives rise to a severe clinical phenotype of muscular dystrophy, which is usually associated with severe dilated cardiomyopathy. While alpha- and gamma-sarcoglycan proteins are expressed almost exclusively in striated muscle, beta- and delta-sarcoglycans are expressed additionally in smooth muscle and coronary vessels, suggesting that in primary beta- and delta-sarcoglycanopathies, a dysfunction of vascular function and nNOS activity may be involved in the pathogenesis of the disease.
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Angelini, C. (2018). Limb-Girdle Muscular Dystrophy Type 2E. In: Genetic Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-56454-8_15
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DOI: https://doi.org/10.1007/978-3-319-56454-8_15
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