Myotilin overexpression enhances myopathology in the LGMD1A mouse model.
Publication
, Journal Article
Garvey, SM; Liu, Y; Miller, SE; Hauser, MA
Published in: Muscle Nerve
May 2008
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.
Duke Scholars
Published In
Muscle Nerve
DOI
ISSN
0148-639X
Publication Date
May 2008
Volume
37
Issue
5
Start / End Page
663 / 667
Location
United States
Related Subject Headings
- Threonine
- Neurology & Neurosurgery
- Mutation
- Muscular Dystrophies, Limb-Girdle
- Muscle, Skeletal
- Muscle Proteins
- Microscopy, Electron, Transmission
- Microfilament Proteins
- Mice, Transgenic
- Mice, Inbred C57BL
Citation
APA
Chicago
ICMJE
MLA
NLM
Garvey, S. M., Liu, Y., Miller, S. E., & Hauser, M. A. (2008). Myotilin overexpression enhances myopathology in the LGMD1A mouse model. Muscle Nerve, 37(5), 663–667. https://doi.org/10.1002/mus.20994
Garvey, Sean M., Yutao Liu, Sara E. Miller, and Michael A. Hauser. “Myotilin overexpression enhances myopathology in the LGMD1A mouse model.” Muscle Nerve 37, no. 5 (May 2008): 663–67. https://doi.org/10.1002/mus.20994.
Garvey SM, Liu Y, Miller SE, Hauser MA. Myotilin overexpression enhances myopathology in the LGMD1A mouse model. Muscle Nerve. 2008 May;37(5):663–7.
Garvey, Sean M., et al. “Myotilin overexpression enhances myopathology in the LGMD1A mouse model.” Muscle Nerve, vol. 37, no. 5, May 2008, pp. 663–67. Pubmed, doi:10.1002/mus.20994.
Garvey SM, Liu Y, Miller SE, Hauser MA. Myotilin overexpression enhances myopathology in the LGMD1A mouse model. Muscle Nerve. 2008 May;37(5):663–667.
Published In
Muscle Nerve
DOI
ISSN
0148-639X
Publication Date
May 2008
Volume
37
Issue
5
Start / End Page
663 / 667
Location
United States
Related Subject Headings
- Threonine
- Neurology & Neurosurgery
- Mutation
- Muscular Dystrophies, Limb-Girdle
- Muscle, Skeletal
- Muscle Proteins
- Microscopy, Electron, Transmission
- Microfilament Proteins
- Mice, Transgenic
- Mice, Inbred C57BL