Actin mutations are one cause of congenital fibre type disproportion.

@article{Laing2004ActinMA,
  title={Actin mutations are one cause of congenital fibre type disproportion.},
  author={Nigel G Laing and Nigel F. Clarke and Danielle E. Dye and Khema Liyanage and Kendall R. Walker and Yasuaki Kobayashi and Shuichi Shimakawa and Tohru Hagiwara and Robert A. Ouvrier and John C. Sparrow and Ichizo Nishino and Kathryn N North and Ikuya Nonaka},
  journal={Annals of neurology},
  year={2004},
  volume={56 5},
  pages={
          689-94
        }
}
We report three heterozygous missense mutations of the skeletal muscle alpha actin gene (ACTA1) in three unrelated cases of congenital fiber type disproportion (CFTD) from Japan and Australia. This represents the first genetic cause of CFTD to be identified and confirms that CFTD is genetically heterogeneous. The three mutations we have identified Leucine221Proline, Aspartate292Valine, and Proline332Serine are novel. They have not been found previously in any cases of nemaline, actin… CONTINUE READING

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