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

被引：53

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

页码：519 / 521

页数：3

共 7 条

[1] Mutations in dynamin 2 cause dominant centronuclear myopathy [J].

Bitoun, M ;

Maugenre, S ;

Jeannet, PY ;

Lacène, E ;

Ferrer, X ;

Laforêt, P ;

Martin, JJ ;

Laporte, J ;

Lochmüller, H ;

Beggs, AH ;

Fardeau, M ;

Eymard, B ;

Romero, NB ;

Guicheney, P .

NATURE GENETICS, 2005, 37 (11) :1207-1209

[2] Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of Ranvier in brain and around T tubules in skeletal muscle [J].

Butler, MH ;

David, C ;

Ochoa, GC ;

Freyberg, Z ;

Daniell, L ;

Grabs, D ;

Cremona, O ;

DeCamilli, P .

JOURNAL OF CELL BIOLOGY, 1997, 137 (06) :1355-1367

[3]

FIDZIANSKA A, 1994, J NEUROL SCI, V124, P83

[4] Centronuclear (myotubular) myopathy [J].

Jungbluth, Heinz ;

Wallgren-Pettersson, Carina ;

Laporte, Jocelyn .

ORPHANET JOURNAL OF RARE DISEASES, 2008, 3 (1)

[5] A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast [J].

Laporte, J ;

Hu, LJ ;

Kretz, C ;

Mandel, JL ;

Kioschis, P ;

Coy, JF ;

Klauck, SM ;

Poustka, A ;

Dahl, N .

NATURE GENETICS, 1996, 13 (02) :175-182

[6] Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy [J].

Nicot, Anne-Sophie ;

Toussaint, Anne ;

Tosch, Valerie ;

Kretz, Christine ;

Wallgren-Pettersson, Carina ;

Iwarsson, Erik ;

Kingston, Helen ;

Garnier, Jean-Marie ;

Biancalana, Valerie ;

Oldfors, Anders ;

Mandel, Jean-Louis ;

Laporte, Jocelyn .

NATURE GENETICS, 2007, 39 (09) :1134-1139

[7] Centronuclear myopathy: Clinical aspects of ten Brazilian patients with childhood onset [J].

Zanoteli, E ;

Oliveira, ASB ;

Schmidt, B ;

Gabbai, AA .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1998, 158 (01) :76-82

← 1 →