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Defective membrane repair in dysferlin-deficient muscular dystrophy

✍ Scribed by Bansal, Dimple; Miyake, Katsuya; Vogel, Steven S.; Groh, Séverine; Chen, Chien-Chang; Williamson, Roger; McNeil, Paul L.; Campbell, Kevin P.

Book ID
121804939
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
463 KB
Volume
423
Category
Article
ISSN
0028-0836

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## Abstract ## 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 dys