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  • Title: A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.
    Author: Ravenscroft G, Wilmshurst JM, Pillay K, Sivadorai P, Wallefeld W, Nowak KJ, Laing NG.
    Journal: Neuromuscul Disord; 2011 Jan; 21(1):31-6. PubMed ID: 20850316.
    Abstract:
    We describe a severe congenital myopathy patient of Xhosa native African origin with a novel de novo p.Gly152Ala skeletal muscle α-actin gene (ACTA1) mutation, who died at 6 months of age. The muscle pathology demonstrated abundant cytoplasmic and intranuclear rods, core-like areas and the unusual feature of larger type I than type II fibres. Our results further expand the phenotypes associated with ACTA1 mutations and provide support for the hypothesis that the structural abnormalities seen are a pathological continuum dependent on the precise mutation and biopsy location. Our results also demonstrate the likely world-wide distribution of de novo mutations in this gene.
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