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A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Molecular and Morphological Pathology.
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2015 (English)In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 25, no 4, 345-348 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2015. Vol. 25, no 4, 345-348 p.
National Category
Basic Medicine
Research subject
URN: urn:nbn:se:uu:diva-245583DOI: 10.1016/j.nmd.2015.01.001ISI: 000353081700009PubMedID: 25633151OAI: oai:DiVA.org:uu-245583DiVA: diva2:791250
Available from: 2015-02-27 Created: 2015-02-27 Last updated: 2015-05-11Bibliographically approved

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Casar-Borota, Olivera
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Molecular and Morphological Pathology
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