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A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres.

Abstract
Nuclear centralisation and internalisation, sarcoplasmic radiating strands and type 1 muscle fibre predominance and hypotrophy characterise dynamin-2 (DNM2) associated centronuclear myopathy, whereas necklace fibres are typically seen in late onset myotubularin-1 (MTM1)-related myopathy. We report a woman with unilateral symptoms probably related to brachial plexus neuritis. Electromyography revealed localised neuropathic and generalised myopathic abnormalities. The typical features of DNM2 centronuclear myopathy with additional necklace fibres were found in the muscle biopsy. Sequencing of the DNM2 and MTM1 genes revealed a novel heterozygous missense mutation in exon 18 of the DNM2, leading to replacement of highly conserved proline at position 647 by arginine. The muscle symptoms have not progressed during the 3-year follow-up. However, the patient has developed bilateral subtle lens opacities. Our findings support the concept that necklace fibres may occasionally be found in DNM2-related myopathy, possibly indicating a common pathogenic mechanism in DNM2 and MTM1 associated centronuclear myopathy.
AuthorsOlivera Casar-Borota, Johan Jacobsson, Rolf Libelius, Carola Hedberg Oldfors, Edoardo Malfatti, Norma Beatriz Romero, Anders Oldfors
JournalNeuromuscular disorders : NMD (Neuromuscul Disord) Vol. 25 Issue 4 Pg. 345-8 (Apr 2015) ISSN: 1873-2364 [Electronic] England
PMID25633151 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2015 Elsevier B.V. All rights reserved.
Chemical References
  • Protein Tyrosine Phosphatases, Non-Receptor
  • myotubularin
  • DNM2 protein, human
  • Dynamin II
  • Dynamins
Topics
  • Adult
  • Age of Onset
  • Dynamin II
  • Dynamins (genetics)
  • Female
  • Follow-Up Studies
  • Humans
  • Muscle, Skeletal (pathology)
  • Mutation, Missense
  • Myopathies, Structural, Congenital (genetics, pathology, physiopathology)
  • Protein Tyrosine Phosphatases, Non-Receptor (genetics)

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