title: Scoliosis surgery in a patient with "de novo" myosin storage myopathy.
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.
authors: Department of Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands. x.stalpers@cwz.nl
authors: Xenia
authors: X
authors: Stalpers
authors: Aad
authors: A
authors: Verrips
authors: Jan
authors: J
authors: Braakhekke
authors: Martin
authors: M
authors: Lammens
authors: Arthur
authors: A
authors: van den Wijngaard
authors: Adriaan
authors: A
authors: Mostert
mesh_terms: D000293:Adolescent; D024722:Cardiac Myosins / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics; D009218:Myosins / Q000378:metabolism*; D012600:Scoliosis / Q000209:etiology / Q000532:radiotherapy / Q000601:surgery*; D014057:Tomography, X-Ray Computed
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains; D009218:Myosins