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Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

✍ Scribed by Margherita Milone; Teerin Liewluck; Thomas L. Winder; Paolo T. Pianosi

Book ID
116795185
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
208 KB
Volume
22
Category
Article
ISSN
0960-8966

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✍ Simone Spuler; Miriam Carl; Joanna Zabojszcza; Volker Straub; Kate Bushby; Steve πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 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