Partial α-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family
✍ Scribed by Mariz Vainzof; Eloisa S. Moreira; Marta Canovas; Louise V.B. Anderson; Rita C.M. Pavanello; Maria Rita Passos-Bueno; Mayana Zatz
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 805 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0148-639X
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✦ Synopsis
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 the partial deficiency of ␣-SG alone. The normal expression of the other three SG proteins suggests that mutations close to the ␣-SG transmembrane domain might be less critical for complex integrity, and that weakness may occur despite its retention.