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Muscular dystrophy in dysferlin-deficient mouse models

✍ Scribed by Hornsey, Mark A.; Laval, Steven H.; Barresi, Rita; Lochmüller, Hanns; Bushby, Kate


Book ID
123434683
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
230 KB
Volume
23
Category
Article
ISSN
0960-8966

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Dysferlin-deficient muscular dystrophy f
✍ Simone Spuler; Miriam Carl; Joanna Zabojszcza; Volker Straub; Kate Bushby; Steve 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 898 KB

## 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