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Lookup NU author(s): Dr Lars Klinge, Dr Richard Charlton, Dr Juliane Mueller, Dr Louise VB Anderson, Professor Volker StraubORCiD, Dr Rita Barresi, Professor Hanns Lochmuller, Emerita Professor Katherine Bushby
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LGMD2B, Miyoshi Myopathy and Distal Anterior Compartment Myopathy are caused by mutations in the dysferlin gene (DYSF) leading to progressive muscular weakness and wasting with onset usually within the second or third decade of life. We here present a patient with disease onset at 73 years. The presenting symptom was exercise-induced stiffness of the trunk and proximal leg muscles without major progression over a period of 12 years. Gastrocnemius muscle biopsy revealed dystrophic morphology and biochemical depletion of dysferlin, while sequence analysis revealed compound heterozygous splicing mutations of the dysferlin gene. This case represents the eldest age of onset of dysferlinopathy reported so far and widens the clinical spectrum of this disease. © 2008 Elsevier B.V. All rights reserved.
Author(s): Klinge L, Dean AF, Kress W, Dixon P, Charlton RG, Müller JS, Anderson LV, Straub VW, Barresi R, Lochmüller H, Bushby K
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2008
Volume: 18
Issue: 4
Pages: 288-290
Print publication date: 01/04/2008
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier
URL: http://dx.doi.org/10.1016/j.nmd.2008.01.004
DOI: 10.1016/j.nmd.2008.01.004
PubMed id: 18396043
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