Dysferlin-deficient muscular dystrophy f
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Simone Spuler; Miriam Carl; Joanna Zabojszcza; Volker Straub; Kate Bushby; Steve
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Article
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2008
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John Wiley and Sons
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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