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  • Title: Scoliosis surgery in a patient with "de novo" myosin storage myopathy.
    Author: Stalpers X, Verrips A, Braakhekke J, Lammens M, van den Wijngaard A, Mostert A.
    Journal: Neuromuscul Disord; 2011 Nov; 21(11):812-5. PubMed ID: 21723124.
    Abstract:
    Myosin storage myopathy is a rare neuromuscular disorder, characterized by subsarcolemmal inclusions exclusively in type I skeletal muscle fibers, known as hyaline bodies. Its clinical spectrum is diverse, as are its modes of inheritance. Myosin storage myopathy, also called hyaline body myopathy, is caused by a pathogenic mutation in the MYH7 gene, encoding for the slow/β-cardiac myosin heavy chain. We describe a patient with this uncommon myopathy, caused by a new p.K1784delK mutation in the MYH7 gene. The patient developed a severe thoracolumbar scoliosis and had scoliosis surgery.
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