TY  - GEN
AU  - Silva-Rojas, Roberto
AU  - Nattarayan, Vasugi
AU  - Jaque-Fernandez, Francisco
AU  - Gomez-Oca, Raquel
AU  - Menuet, Alexia
AU  - Reiss, David
AU  - Goret, Marie
AU  - Messaddeq, Nadia
AU  - Lionello, Valentina M
AU  - Kretz, Christine
AU  - Cowling, Belinda S
AU  - Jacquemond, Vincent
AU  - Laporte, Jocelyn
PY  - 2022
UR  - https://hdl.handle.net/20.500.12105/26138
AB  - Mutations in the BIN1 (Bridging Interactor 1) gene, encoding the membrane remodeling protein amphiphysin 2, cause centronuclear myopathy (CNM) associated with severe muscle weakness and myofiber disorganization and hypotrophy. There is no available...
LA  - eng
PB  - Cell Press
KW  - MTM1
KW  - amphiphysin
KW  - antisense oligonucleotides
KW  - dynamin
KW  - membrane curvature
KW  - myopathy
KW  - myotubular myopathy
KW  - myotubularin
KW  - t-tubule
KW  - therapy
TI  - Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.
TY  - research article
ER  -