Concepedia

Dysferlin‐deficient muscular dystrophy features amyloidosis

Simone Spuler, Miriam Carl, Joanna Zabojszcza, Volker Straub, Kate Bushby, Steven A. Moore, Sylvia Bähring, Katrin Wenzel, Uwe Vinkemeier, Christoph Röcken

Annals of Neurology · 2008 · 79 citations · 21 references

DOI

Abstract

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.

References

21

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Defective membrane repair in dysferlin-deficient muscular dystrophy

Dimple Bansal, Katsuya Miyake, Steven S. Vogel et al. · Nature · 2003 · 1K citations

, , +4

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Jing Liu, Masashi Aoki, Isabel Illa et al. · Nature Genetics · 1998 · 914 citations

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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan et al. · Nature Genetics · 1998 · 679 citations

, , +10

Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing

Niall J. Lennon, Alvin T. Kho, Brian J. Bacskai et al. · Journal of Biological Chemistry · 2003 · 399 citations · Full text