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Dysferlin-deficient muscular dystrophy features amyloidosis

Lookup NU author(s): Professor Volker StraubORCiD, Emerita Professor Katherine Bushby


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Objective: Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy. The consequences of DYSF mutations on protein structure are poorly understood. Methods: The gene encoding dysferlin was sequenced in patients with suspected dysferlin-deficient muscular dystrophy. Muscle biopsy specimens were analyzed by histochemistry, immunohistochemistry, and electron microscopy. Antibodies against N-terminal dysferlin-peptides were raised. Results: We found three families with muscular dystrophy caused by homozygous or compound heterozygous DYSF mutations featuring sarcolemmal and interstitial amyloid deposits. These mutations were all located in the N-terminal region of the protein. Dysferlin was a constituent of the amyloid deposits. Interpretation: Limb girdle muscular dystrophy type 2B is the first muscular dystrophy associated with amyloidosis. Molecular treatment strategies will necessarily have to consider the presence of amyloidogenesis. © 2008 American Neurological Association. Published by Wiley-Liss, Inc.

Publication metadata

Author(s): Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore SA, Bähring S, Wenzel K, Vinkemeier U, Rocken C

Publication type: Article

Publication status: Published

Journal: Annals of Neurology

Year: 2008

Volume: 63

Issue: 3

Pages: 323-328

ISSN (print): 0364-5134

ISSN (electronic): 1531-8249

Publisher: John Wiley & Sons, Inc.


DOI: 10.1002/ana.21309

PubMed id: 18306167


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Funder referenceFunder name
G0601943Medical Research Council