Myopathies associated with β-tropomyosin mutations.

@article{Tajsharghi2012MyopathiesAW,
  title={Myopathies associated with β-tropomyosin mutations.},
  author={Homa Tajsharghi and Monica Ohlsson and L. C. Palm and Anders Oldfors},
  journal={Neuromuscular disorders : NMD},
  year={2012},
  volume={22 11},
  pages={923-33}
}
Mutations in TPM2, encoding β-tropomyosin, have recently been found to cause a range of muscle disorders. We review the clinical and morphological expression of the previously reported mutations illustrating the heterogeneity of β-tropomyosin-associated diseases and describe an additional case with a novel mutation. The manifestations of mutations in TPM2 include non-specific congenital myopathy with type 1 fibre predominance, nemaline myopathy, cap disease and distal arthrogryposis. In… CONTINUE READING
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