A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies

Neuromuscul Disord. 2013 May;23(5):437-40. doi: 10.1016/j.nmd.2013.02.011. Epub 2013 Mar 13.


Congenital myopathy related to mutations in myosin MyHC IIa gene (MYH2) is a rare neuromuscular disease. A single dominant missense mutation has been reported so far in a family in which the affected members had congenital joint contractures at birth, external ophthalmoplegia and proximal muscle weakness. Afterward only additional 4 recessive mutations have been identified in 5 patients presenting a mild non-progressive early-onset myopathy associated with ophthalmoparesis. We report a new de novo MYH2 missense mutation in a baby affected by a congenital myopathy characterized by severe dysphagia, respiratory distress at birth and external ophthalmoplegia. We describe clinical, histopathological and muscle imaging findings expanding the clinical and genetic spectrum of MYH2-related myopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Cytoskeletal Proteins / genetics
  • Female
  • Humans
  • Molecular Sequence Data
  • Muscle Weakness / genetics
  • Muscle Weakness / pathology*
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Mutation, Missense / genetics*
  • Myosin Heavy Chains / chemistry
  • Myosin Heavy Chains / genetics*
  • Myosin Type V / chemistry
  • Myosin Type V / genetics*
  • Ophthalmoplegia / genetics
  • Ophthalmoplegia / pathology
  • Sequence Analysis, Protein


  • Cytoskeletal Proteins
  • MYO5A protein, human
  • Myosin Type V
  • Myosin Heavy Chains