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Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue

✍ Scribed by T. Haenggi; J. -M. Fritschy


Publisher
Springer
Year
2006
Tongue
English
Weight
626 KB
Volume
63
Category
Article
ISSN
1420-682X

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In patients with sarcoglycan (SG) deficiency, a primary defect in any one of the four SG proteins usually leads to reduced expression of the whole SG complex. We report a limb-girdle muscular dystrophy type 2D family (LGMD2D), with variable phenotype, where a mutation in the ␣-SG gene resulted in th