Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family.

Abstract

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 alpha-SG gene resulted in the partial deficiency of alpha-SG alone. The normal… (More)

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Cite this paper

@article{Vainzof2000PartialAD, title={Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family.}, author={Mariz Vainzof and E. S. Moreira and Manuel C{\'a}novas and Lucy Anderson and Rita de Cassia M. Pavanello and Maria Rita Santos Passos-Bueno and Martin Zatz}, journal={Muscle & nerve}, year={2000}, volume={23 6}, pages={984-8} }