Scoliosis surgery in a patient with "de novo" myosin storage myopathy

Xenia Stalpers*, Aad Verrips, Jan Braakhekke, Martin Lammens, Arthur van den Wijngaard, Adriaan Mostert

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

10 Citations (Web of Science)

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/beta-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.
Original languageEnglish
Pages (from-to)812-815
JournalNeuromuscular Disorders
Volume21
Issue number11
DOIs
Publication statusPublished - Nov 2011

Keywords

  • Myosin storage myopathy
  • Hyaline body myopathy
  • Scoliosis surgery
  • MYH7 gene

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