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    Mutations and polymorphisms of the skeletal muscle a-actin gene (ACTA1)

    Access Status
    Open access via publisher
    Authors
    Laing, N.
    Dye, Danielle
    Wallgren-Pettersson, C.
    Richard, G.
    Monnier, N.
    Lillis, S.
    Winder, T.
    Lochmüller, H.
    Graziano, C.
    Mitrani-Rosenbaum, S.
    Twomey, D.
    Sparrow, J.
    Beggs, A.
    Nowak, K.
    Date
    2009
    Type
    Journal Article
    
    Metadata
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    Citation
    Laing, N. and Dye, D. and Wallgren-Pettersson, C. and Richard, G. and Monnier, N. and Lillis, S. and Winder, T. et al. 2009. Mutations and polymorphisms of the skeletal muscle a-actin gene (ACTA1). Human Mutation. 30 (9): pp. 1267-1277.
    Source Title
    Human Mutation
    DOI
    10.1002/humu.21059
    ISSN
    1059-7794
    School
    School of Biomedical Sciences
    URI
    http://hdl.handle.net/20.500.11937/47755
    Collection
    • Curtin Research Publications
    Abstract

    The ACTA1 gene encodes skeletal muscle a-actin, which is the predominant actin isoform in the sarcomeric thin filaments of adult skeletal muscle, and essential, along with myosin, for muscle contraction. ACTA1 disease-causing mutations were first described in 1999, when a total of 15 mutations were known. In this article we describe 177 different disease-causing ACTA1 mutations, including 85 that have not been described before. ACTA1 mutations result in five overlapping congenital myopathies: nemaline myopathy; intranuclear rod myopathy; actin filament aggregate myopathy; congenital fiber type disproportion; and myopathy with core-like areas. Mixtures of these histopathological phenotypes may be seen in a single biopsy from one patient. Irrespective of the histopathology, the disease is frequently clinically severe, with many patients dying within the first year of life. Most mutations are dominant and most patients have de novo mutations not present in the peripheral blood DNA of either parent. Only 10% of mutations are recessive and they are genetic or functional null mutations. To aid molecular diagnosis and establishing genotype-phenotype correlations, we have developed a locus-specific database for ACTA1 variations (http://waimr.uwa.edu.au). © 2009 Wiley-Liss, Inc.

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