Abstract
Based on the pattern of distribution of the SG proteins in patients with LGMD2C and 2D, and on the observed decreased abundance of dystrophin through WB in some sarcoglycans (SG) patients, we have recently suggested that α, β and δ subunits of sarcoglycan complex might be more closely associated and that γ-SG might interact more directly with dystrophin. Two additional SG patients here reported give further support to these suggestions: an LGMD2F patient showed patchy labelling for γ-SG, despite the lack of staining of the other three SG proteins; an LGMD2C boy showed deficiency in dystrophin by means of WB and IF, comparable with an DMD manifesting carrier. These two patients represent further evidence of a closer relation of α, β and δ-SG than of γ-SG and of the possible association of γ-SG with dystrophin. In addition the LGMD2C patient illustrates the potential risk of misdiagnosis using only dystrophin analysis, in cases with no positive family history, or when DNA analysis is not informative.
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Vainzof, M., Moreira, E., Ferraz, G. et al. Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin–glycoprotein complex. Eur J Hum Genet 7, 251–254 (1999). https://doi.org/10.1038/sj.ejhg.5200263
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DOI: https://doi.org/10.1038/sj.ejhg.5200263