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={J. Sparrow and K. Nowak and H. Durling and A. Beggs and C. Wallgren‐Pettersson and N. Romero and I. Nonaka and N. Laing},
  journal={Neuromuscular Disorders},
  year={2003},
  volume={13},
  pages={519-531}
}
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… Expand
Mutations and polymorphisms of the skeletal muscle α‐actin gene (ACTA1)
Uwa Research Publication
Myopathy mutations in α-skeletal-muscle actin cause a range of molecular defects
Actin-Related Myopathy Without Any Missense Mutation in the ACTA1 Gene
Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms
! 1 ! Skeletal muscle α-actin diseases-“ actinopathies ”
Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutations
Genotype–phenotype correlations in ACTA1 mutations that cause congenital myopathies
Functional Effects of Nemaline Myopathy Mutations on Human Skeletal α-Actin*
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 86 REFERENCES
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
...
1
2
3
4
5
...