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

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Abstract

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.

Original languageEnglish
Pages (from-to)437-440
Number of pages4
JournalNeuromuscular Disorders
Volume23
Issue number5
DOIs
Publication statusPublished - May 2013

Keywords

  • Congenital myopathy
  • Joint contractures
  • MYH2
  • MyHC IIa
  • Ophthalmoplegia

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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