Abstract
The LGMD due to mutations which affect members of the sarcoglycan complex can be due to poor assembly of the complex and loss of alpha-sarcoglycan ecto-ATPase function. Indeed, the first member of the complex was identified in 1993 in cases where alpha-sarcoglycan protein was absent due to mutations in the SGCA gene. The protein was originally named “adhalin” by Fardeau, because of the Arabic name of muscle which is “adhal.” Its protein defect was recognized to cause the original patients with Duchenne-like females or males and later also a variety of phenotypes in adult cases. Some of them have been treated also with steroids for their similarities to Duchenne dystrophy pathogenesis.
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References
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Angelini, C. (2018). Limb-Girdle Muscular Dystrophy Type 2D. In: Genetic Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-56454-8_14
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DOI: https://doi.org/10.1007/978-3-319-56454-8_14
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