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• W2089884738 abstract "Mutations in the skeletal muscle α-actin gene (ACTA1) cause a range of congenital myopathies characterised by muscle weakness and specific skeletal muscle structural lesions. Actin accumulations, nemaline and intranuclear bodies, fibre-type disproportion, cores, caps, dystrophic features and zebra bodies have all been seen in biopsies from patients with ACTA1 disease, with patients frequently presenting with multiple pathologies. Therefore increasingly it is considered that these entities may represent a continuum of structural abnormalities arising due to ACTA1 mutations. Recently an ACTA1 mutation has also been associated with a hypertonic clinical presentation with nemaline bodies. Whilst multiple genes are known to cause many of the pathologies associated with ACTA1 mutations, to date actin aggregates, intranuclear rods and zebra bodies have solely been attributed to ACTA1 mutations. Approximately 200 different ACTA1 mutations have been identified, with 90 % resulting in dominant disease and 10 % resulting in recessive disease. Despite extensive research into normal actin function and the functional consequences of ACTA1 mutations in cell culture, animal models and patient tissue, the mechanisms underlying muscle weakness and the formation of structural lesions remains largely unknown. Whilst precise mechanisms are being grappled with, headway is being made in terms of developing therapeutics for ACTA1 disease, with gene therapy (specifically reducing the proportion of mutant skeletal muscle α-actin protein) and pharmacological agents showing promising results in animal models and patient muscle. The use of small molecules to sensitise the contractile apparatus to Ca2+ is a promising therapeutic for patients with various neuromuscular disorders, including ACTA1 disease." @default.
• W2089884738 created "2016-06-24" @default.
• W2089884738 creator A5017114623 @default.
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• W2089884738 creator A5076037048 @default.
• W2089884738 date "2012-07-24" @default.
• W2089884738 modified "2023-10-18" @default.
• W2089884738 title "Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms" @default.
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• W2089884738 doi "https://doi.org/10.1007/s00401-012-1019-z" @default.
• W2089884738 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22825594" @default.
• W2089884738 hasPublicationYear "2012" @default.
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