A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.

@article{Michele1999ANM,
  title={A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.},
  author={Daniel Eugene Michele and Faris P. Albayya and Joseph M Metzger},
  journal={The Journal of clinical investigation},
  year={1999},
  volume={104 11},
  pages={1575-81}
}
Nemaline myopathy (NM) is a rare autosomal dominant skeletal muscle myopathy characterized by severe muscle weakness and the subsequent appearance of nemaline rods within the muscle fibers. Recently, a missense mutation inTPM3, which encodes the slow skeletal alpha-tropomyosin (alphaTm), was linked to NM in a large kindred with an autosomal-dominant, childhood-onset form of the disease. We used adenoviral gene transfer to fully differentiated rat adult myocytes in vitro to determine the effects… CONTINUE READING

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