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

Journal article
Authors O. Casar-Borota
J. Jacobsson
R. Libelius
Carola Oldfors Hedberg
E. Malfatti
N. B. Romero
Anders Oldfors
Published in Neuromuscular Disorders
Volume 25
Issue 4
Pages 345-348
ISSN 0960-8966
Publication year 2015
Published at Institute of Biomedicine, Department of Pathology
Pages 345-348
Language en
Links dx.doi.org/10.1016/j.nmd.2015.01.00...
Keywords Centronuclear myopathy, Dynamin 2, Necklace fibre, LINKED MYOTUBULAR MYOPATHY, DNM2 MUTATION, MUSCLE PSEUDOHYPERTROPHY, NEUTROPENIA, PHENOTYPE, MARKER, Clinical Neurology, Neurosciences
Subject categories Neurosciences

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. (C) 2015 Elsevier B.V. All rights reserved.

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