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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.

We have partially sequenced rabbit skeletal muscle gamma-sarcoglycan, an integral component of the dystrophin-glycoprotein complex. Specific antibodies were produced against a gamma-sarcoglycan peptide and used to examine the expression of gamma-sarcoglycan in skeletal muscle of patients with severe childhood autosomal muscular dystrophy linked to chromosome 13q12 (SCARMD). We show by immunofluorescence and Western blotting that in skeletal muscle from these patients gamma-sarcoglycan is completely absent and alpha- and beta-sarcoglycan are greatly reduced in abundance, whereas other components of the DGC are preserved. In addition, we show that in normal muscle alpha-, beta-, and gamma-sarcoglycan constitute a tightly associated sarcolemma complex which cannot be disrupted by SDS treatment.[1]

References

  1. Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. Jung, D., Leturcq, F., Sunada, Y., Duclos, F., Tomé, F.M., Moomaw, C., Merlini, L., Azibi, K., Chaouch, M., Slaughter, C., Fardeau, M., Kaplan, J.C., Campbell, K.P. FEBS Lett. (1996) [Pubmed]
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