Citations for
1BIN1, CNM3, MBNL1
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, Lopez de Munain A, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N.
Nat Med 17(6):720-5. Epub 2011 May 29. 2011
2BIN1, CNM3
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J.
Acta Neuropathol 121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7. 2011
3BIN1, CNM3
Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.
Claeys KG, Maisonobe T, Böhm J, Laporte J, Hezode M, Romero NB, Brochier G, Bitoun M, Carlier RY, Stojkovic T.
Neurology 74(6):519-21. doi: 10.1212/WNL.0b013e3181cef7f9. No abstract available. 2010
4CNM3, BIN1
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J.
Nat Genet 39(9):1134-9. Epub 2007 Aug 5. 2007
5CNM3, MYF6
The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2.
Tiret L, Blot S, Kessler JL, Gaillot H, Breen M, Panthier JJ.
Hum Genet 113(4):297-306. Epub 2003 Jul 23. 2003