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Keywords: Limb-girdle muscular dystrophy type 2B
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Journal Articles
In collection:
Cell biology and disease
Julia Hofhuis, Kristina Bersch, Ronja Büssenschütt, Marzena Drzymalski, David Liebetanz, Viacheslav O. Nikolaev, Stefan Wagner, Lars S. Maier, Jutta Gärtner, Lars Klinge, Sven Thoms
Journal:
Journal of Cell Science
J Cell Sci (2017) 130 (5): 841–852.
Published: 1 March 2017
... muscle; however, its physiological mode of action is unknown. Mutations in the DYSF gene lead to autosomal recessive limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Here, we show that dysferlin has membrane tubulating capacity and that it shapes the T-tubule system. Dysferlin tubulates...
Includes: Supplementary data