These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
    Author: Feng JJ, Marston S.
    Journal: Neuromuscul Disord; 2009 Jan; 19(1):6-16. PubMed ID: 18976909.
    Abstract:
    Mutations in the skeletal muscle actin gene, ACTA1 are responsible for up to 20% of congenital myopathies with a variety of pathologies that includes nemaline myopathy, intranuclear rod myopathy, actin myopathy and congenital fibre type disproportion. In their review of 2003, Sparrow et al. considered how these actin mutations might affect muscle function at the molecular level and thus cause the disease. Since then several laboratories have taken up the challenge of investigating genotype-phenotype relationships experimentally. The objective of this review is to assess the current state of our understanding of the molecular mechanisms of skeletal myopathies and the prospects for future therapies based on this knowledge. Thirty congenital myopathy-causing ACTA1 mutations have been studied using a range of biochemical and in vitro approaches. They showed diverse molecular defects, and there is no obvious pattern seen in mutations resulting in the same histopathology.
    [Abstract] [Full Text] [Related] [New Search]