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

Lookup NU author(s): Dr Louise VB Anderson

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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 α-SG gene resulted in the partial deficiency of α-SG alone. The normal expression of the other three SG proteins suggests that mutations close to the α-SG transmembrane domain might be less critical for complex integrity, and that weakness may occur despite its retention. (C) 2000 John Wiley and Sons, Inc.

Publication metadata

Author(s): Anderson LVB; Vainzof M; Moreira ES; Canovas M; Pavanello RCM; Passos-Bueno MR; Zatz M

Publication type: Article

Publication status: Published

Journal: Muscle and Nerve

Year: 2000

Volume: 23

Issue: 6

Pages: 984-988

Print publication date: 01/01/2000

ISSN (print): 0148-639X

ISSN (electronic): 1097-4598

Publisher: John Wiley & Sons

URL: http://www.ncbi.nlm.nih.gov/pubmed/10842281

PubMed id: 10842281

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