Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation

Teerin Liewluck, Tracy L. Lovell, Anna V. Bite, Andrew G Engel

Research output: Contribution to journalArticle

28 Scopus citations

Abstract

Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy. DNM2-CMT but not DNM2-CNM patients were noted to have neutropenia. We here report a man with paravertebral muscles hypertrophy and mild neutropenia. His muscle biopsy was typical for CNM with additional "necklace" fibers. Sequencing of DNM2 revealed a known heterozygous c.1269C > T (p.Arg369Trp) mutation. Necklace fibers were considered as a pathological hallmark of late onset X-linked CNM due to mutations in MTM1 but have not been observed in DNM2-CNM. The findings broaden the features of DNM2-myopathy.

Original languageEnglish (US)
Pages (from-to)801-804
Number of pages4
JournalNeuromuscular Disorders
Volume20
Issue number12
DOIs
StatePublished - Dec 2010

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Keywords

  • Centronuclear myopathy
  • DNM2
  • Dynamin 2
  • Muscle hypertrophy
  • Muscle pseudohypertrophy
  • Necklace fibers
  • Neutropenia

ASJC Scopus subject areas

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

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