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Late onset in dysferlinopathy widens the clinical spectrum

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.

Publication metadata

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


DOI: 10.1016/j.nmd.2008.01.004

PubMed id: 18396043


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Funder referenceFunder name
G0601943Medical Research Council