The pathogenesis of ACTA1‐related congenital fiber type disproportion

@article{Clarke2007ThePO,
  title={The pathogenesis of ACTA1‐related congenital fiber type disproportion},
  author={N. Clarke and B. Ilkovski and S. Cooper and V. Valova and P. Robinson and I. Nonaka and Juanjuan Feng and Steven B Marston and K. North},
  journal={Annals of Neurology},
  year={2007},
  volume={61}
}
Mutations in ACTA1 have been associated with a variety of changes in muscle histology that likely result from fundamental differences in the way that ACTA1 mutations disrupt muscle function. Recently, we reported three patients with congenital fiber type disproportion (CFTD) caused by novel heterozygous missense mutations in ACTA1 (D292V, L221P, P332S) with marked type 1 fiber hypotrophy as the only pathological finding on muscle biopsy. We have investigated the basis for the histological… Expand
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