Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy

K. Oatmen, S. Camelo-Piragua, N. Zaghloul

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


INTRODUCTION: Hereditary myosin myopathies are muscle disorders caused by mutations in myosin heavy chain genes. The MYH2 gene encodes the fast 2A skeletal muscle isoform, and mutations manifest as joint contractures, muscle weakness, and external ophthalmoplegia. Muscle biopsy shows decreased type 2A fibers, and vacuoles are sometimes present in adults with progressive disease. PRESENTATION OF CASE: This case describes a full term baby boy with hypotonia, dysmorphic features, dysphagia, and aspiration. Whole genome sequencing detected a novel heterozygous variant in the MYH2 gene. Muscle biopsy showed decreased type 2A fibers and vacuoles in myofibers. DISCUSSION: Hypotonia and dysphagia are common in infants with a MYH2 myopathy. However, dysmorphic features and vacuoles on biopsy have not previous been described in infants with MYH2 myopathies. CONCLUSION: This case reports an unusual phenotype of a rare neonatal-onset congenital myopathy associated with a novel heterozygous variant in MYH2.

Original languageEnglish (US)
Pages (from-to)63-68
Number of pages6
JournalJournal of Neonatal-Perinatal Medicine
Issue number1
StatePublished - 2022


  • Dysphagia
  • hereditary myosin myopathies
  • hypotonia
  • myofiber vacuoles myosin heavy chain genes
  • neonatal-onset congenital myopathy

ASJC Scopus subject areas

  • General Medicine


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