Myotilin overexpression enhances myopathology in the LGMD1A mouse model

Sean M. Garvey, Yutao Liu, Sara E. Miller, Michael A. Hauser

Research output: Contribution to journalArticle

9 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)663-667
Number of pages5
JournalMuscle and Nerve
Volume37
Issue number5
DOIs
StatePublished - May 1 2008
Externally publishedYes

Keywords

  • Central nuclei
  • LGMD1A
  • Muscular dystrophy
  • Myofibrillar myopathy
  • Myotilin

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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