PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION

被引：52
|
作者：
Claeys, K. G. [1 ,2 ]
Maisonobe, T. [4 ]
Boehm, J. [5 ,6 ]
Laporte, J. [5 ,6 ]
Hezode, M.
Romero, N. B. [2 ,7 ,8 ]
Brochier, G.
Bitoun, M. [7 ,8 ]
Carlier, R. Y. [3 ,9 ]
Stojkovic, T. [2 ,7 ,8 ]
机构：
[1] Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, France
[2] Grp Hosp Pitie Salpetriere, Ctr Reference Neuromusculaire Paris Est, AP HP, F-75634 Paris, France
[3] Grp Hosp Pitie Salpetriere, Lab RMN AIM CEA, AP HP, F-75634 Paris, France
[4] Grp Hosp Pitie Salpetriere, Inst Myol, AP HP, Serv Neuropathol, F-75634 Paris, France
[5] Univ Strasbourg, INSERM, CNRS, Dept Neurobiol & Genet,IGBMC,U964,UMR7104, Illkirch Graffenstaden, France
[6] Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France
[7] INSERM, U974, Paris, France
[8] Univ Paris 06, CNRS, UMR S974, UMR7215,IFR14,Inst Myol, Paris, France
[9] Hop Raymond Poincare, Serv Radiol, Garches, France
来源：
NEUROLOGY | 2010年 / 74卷 / 06期
关键词：
MYOTUBULAR MYOPATHY; DYNAMIN-2; FAMILY;
D O I：
10.1212/WNL.0b013e3181cef7f9
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：519 / 521
页数：3
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