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Short Report
Myotilin overexpression enhances myopathology in the LGMD1A mouse model
Article first published online: 11 MAR 2008
DOI: 10.1002/mus.20994
Copyright © 2008 Wiley Periodicals, Inc.
1097-4598/asset/cover.gif?v=1&s=939b0f38e4fb160e847df620ffcf95574c28aa96 "Muscle & Nerve")
Additional Information
How to Cite
Garvey, S. M., Liu, Y., Miller, S. E. and Hauser, M. A. (2008), Myotilin overexpression enhances myopathology in the LGMD1A mouse model. Muscle Nerve, 37: 663–667. doi: 10.1002/mus.20994
Publication History
- Issue published online: 9 APR 2008
- Article first published online: 11 MAR 2008
- Manuscript Accepted: 1 FEB 2008
Funded by
- Muscular Dystrophy Association
- NIH/NINDS. Grant Numbers: NS026630, NS047910
- Ruth L. Kirschstein National Research Service Award
- Abstract
- Article
- References
- Cited By
Keywords:
- central nuclei;
- LGMD1A;
- muscular dystrophy;
- myofibrillar myopathy;
- myotilin
Abstract
Missense mutations in the myotilin gene cause limb-girdle muscular dystrophy type 1A (LGMD1A). We set out to examine the effect of overexpression of wild-type myotilin in an LGMD1A mouse model by crossing wild-type and mutant transgenic mice. Compared to single-transgenic mutant mice, double-transgenic mice overexpressing myotilin showed more severe muscle degeneration, enhanced myofibrillar aggregation, and earlier onset of aggregation. These data suggest that strategies aimed at lowering total myotilin levels in LGMD1A patients may be an effective therapeutic approach. Muscle Nerve, 2008