Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy.

@article{Goebel2006PatientWA,
  title={Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy.},
  author={Hans Hilmar Goebel and Knut Brockman and Carsten G B{\"o}nnemann and Irene A P Warlo and Folker A Hanefeld and Siegfried Labeit and Hayley J Durling and Nigel G Laing},
  journal={Journal of child neurology},
  year={2006},
  volume={21 6},
  pages={545}
}

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