Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

@article{Sparrow2003MuscleDC,
  title={Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).},
  author={John C. Sparrow and Kristen Jean Nowak and Hayley J Durling and Alan H. Beggs and Carina Wallgren-Pettersson and Norma Beatriz Romero and Ikuya Nonaka and Nigel G Laing},
  journal={Neuromuscular disorders : NMD},
  year={2003},
  volume={13 7-8},
  pages={519-31}
}
Mutations in the skeletal muscle alpha-actin gene (ACTA1) associated with congenital myopathy with excess of thin myofilaments, nemaline myopathy and intranuclear rod myopathy were first described in 1999. At that time, only 15 different missense mutations were known in ACTA1. More than 60 mutations have now been identified. This review analyses this larger spectrum of mutations in ACTA1. It investigates the molecular consequences of the mutations found to date, provides a framework for… CONTINUE READING
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