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：

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

页码：519 / 521

页数：3