alexa Progressive Neuromuscular Syndromes Linked to Dynamin-2
ISSN: 2376-0389

Journal of Multiple Sclerosis
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Review Article

Progressive Neuromuscular Syndromes Linked to Dynamin-2 Mutations

Neil M Renwick1, Lev G Goldfarb2*, Nyamkhishig Sambuughin3, Jenny E Hinshaw4, Camilo Toro5and Yodor A Platonov6

1Department of Pathology and Molecular Medicine, Queen¹s University, Kingston General Hospital, Kingston, ON K7L 3N6, Canada

2National Institute of Neurological Disorder and Stoke, National Institute of Health, Bethesda, MD 20892, USA

3Consortium for Health and Military Performance, Department of Military and Emergency Medicine, Uniformed Services University, Bethesda, MD 20814, USA

4National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA

5National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA

6Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk 677010, the Russian Federation Russia

*Corresponding Author:
Lev G Goldfarb
MD, National Institutes of Health
5625 Fishers Lane, Room 4S26
Bethesda, Maryland, USA
Tel: 301-402-1480
E-mail: [email protected]

Received November 28, 2015; Accepted January 09, 2016; Published January 18, 2016

Citation:Renwick NM, Goldfarb LG, Sambuughin N, Hinshaw JE, Toro C, et al. (2016) Progressive Neuromuscular Syndromes Linked to Dynamin-2 Mutations. J Mult Scler (Foster City) 3:163. doi:10.4172/2376-0389.1000163

Copyright: © 2016 Renwick NM, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

 

Abstract

Abstract

Mutations in dynamin-2 are associated with several neuromuscular disorders, including two forms of Charcot- Marie-Tooth disease, axonal CMT2M and intermediate CMTDIB, Centronuclear myopathy ADCNM, Lethal congenital contractures syndrome type 5 LCCS5, and Hereditary spastic paraplegia SPG. Each disorder manifests with muscle weakness and atrophy, however the cause of weakness is due to damage to peripheral nerves in CMT2M and CMTDIB, skeletal muscle degeneration in ADCNM, and disturbances in the upper motor neurons and/or corticospinal tracts in SPG. Pathogenic effects of mutations may result from domain-specific structural and functional disruptions. ADCNMcausing mutations cluster at the interface between the Stalk and Pleckstrin homology domains, whereas CMT-related mutations occur in the part of the Pleckstrin homology domain adjoining the C-terminal Proline/arginine-rich domain. The SPG-associated p.Arg719Trp mutation is uniquely located at the highly conserved hinge region of the Bundlesignaling element, potentially preventing normal assembly of the helical polymer.

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