Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

被引:17
作者
Krahn, M. [1 ,2 ]
Goicoechea, M. [3 ,4 ]
Hanisch, F. [5 ,6 ]
Groen, E. [6 ]
Bartoli, M. [2 ]
Pecheux, C. [1 ]
Garcia-Bragado, F. [7 ]
Leturcq, F. [8 ]
Jeannet, P-Y [9 ]
Lobrinus, J. A. [10 ]
Jacquemont, S. [11 ]
Strober, J. [12 ]
Urtizberea, J. A. [13 ]
Saenz, A. [3 ,4 ]
Bushby, K. [6 ]
Levy, N. [1 ,2 ]
Lopez de Munain, A. [3 ,4 ]
机构
[1] Hop Enfants La Timone, AP HM, Dept Med Genet, Marseille, France
[2] Univ Aix Marseille 2, Fac Med Timone, Inserm UMR S 910, Marseille, France
[3] Hosp Donostia, Serv Neurol, San Sebastian, Basque Country, Spain
[4] Hosp Donostia, Unidad Expt, San Sebastian, Basque Country, Spain
[5] Univ Halle Wittenberg, Dept Neurol, D-4010 Halle, Germany
[6] Newcastle Univ, Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
[7] Hosp Virgen del Camino, Serv Anat Patol, Pamplona, Spain
[8] Hop Cochin, Lab Biochim Genet, F-75674 Paris, France
[9] CHUV, Dept Pediat, Neuropediat Unit, Lausanne, Switzerland
[10] CHUV, Inst Univ Pathol, Lausanne, Switzerland
[11] CHUV, Serv Genet Med, Lausanne, Switzerland
[12] UCSF, San Francisco, CA USA
[13] Hop Marin, AP HP, Hendaye, France
基金
英国医学研究理事会;
关键词
MYOSITIS;
D O I
10.1111/j.1399-0004.2010.01620.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:398 / 402
页数:5
相关论文
共 6 条
[1]   Adults with eosinophilic myositis and calpain-3 mutations [J].
Amato, Anthony A. .
NEUROLOGY, 2008, 70 (09) :730-731
[2]   Eosinophilic myositis as presenting symptom in γ-sarcoglycanopathy [J].
Baumeister, Sarah K. ;
Todorovic, Slobodanka ;
Milic-Rasic, Vedrana ;
Dekomien, Gabriele ;
Lochmueller, Hanns ;
Walter, Maggie C. .
NEUROMUSCULAR DISORDERS, 2009, 19 (02) :167-171
[3]   Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance [J].
Beckmann, Jacques S. ;
Spencer, Melissa .
NEUROMUSCULAR DISORDERS, 2008, 18 (12) :913-921
[4]   Calpainopathy and eosinophilic myositis [J].
Brown, RH ;
Amato, A .
ANNALS OF NEUROLOGY, 2006, 59 (06) :875-877
[5]   CAPN3 mutations in patients with idiopathic eosinophilic myositis [J].
Krahn, Martin ;
Lopez de Munain, Adolfo ;
Streichenberger, Nathalie ;
Bernard, Rafaelle ;
Pecheux, Christophe ;
Testard, Herve ;
Pena-Segura, Jose L. ;
Yoldi, Eugenia ;
Cabello, Ana ;
Romero, Norma B. ;
Poza, Juan J. ;
Bouillot-Eimer, Sandrine ;
Ferrer, Xavier ;
Goicoechea, Maria ;
Garcia-Bragado, Federico ;
Leturcq, France ;
Urtizberea, J. Andoni ;
Levy, Nicolas .
ANNALS OF NEUROLOGY, 2006, 59 (06) :905-911
[6]   MUTATIONS IN THE PROTEOLYTIC-ENZYME CALPAIN-3 CAUSE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2A [J].
RICHARD, I ;
BROUX, O ;
ALLAMAND, V ;
FOUGEROUSSE, F ;
CHIANNILKULCHAI, N ;
BOURG, N ;
BRENGUIER, L ;
DEVAUD, C ;
PASTURAUD, P ;
ROUDAUT, C ;
HILLAIRE, D ;
PASSOSBUENO, MR ;
ZATZ, M ;
TISCHFIELD, JA ;
FARDEAU, M ;
JACKSON, CE ;
COHEN, D ;
BECKMANN, JS .
CELL, 1995, 81 (01) :27-40