Inflammation in dysferlin myopathy:: Immunohistochemical characterization of 13 patients

被引：158

作者：

Gallardo, E

Rojas-García, R

de Luna, N

Pou, A

Brown, RH

Illa, I

机构：

[1] Hosp Santa Creu & Sant Pau, Dept Neurol, UAB, Barcelona 08025, Spain

[2] Hosp Santa Creu & Sant Pau, Neuromuscular Unit, Barcelona 08025, Spain

[3] Hosp Santa Creu & Sant Pau, Lab Expt Neurol, Barcelona 08025, Spain

[4] Univ Autonoma Barcelona, Inst Recerca, HSCSP, E-08193 Barcelona, Spain

[5] Hosp del Mar, Dept Neurol, Barcelona, Spain

[6] Massachusetts Gen Hosp, Day Neuromuscular Res Lab, Charlestown, MA USA

来源：

NEUROLOGY | 2001年 / 57卷 / 11期

关键词：

D O I：

10.1212/WNL.57.11.2136

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Inflammation was detected in 9 of 13 patients with different phenotypes of dysferlin myopathy. Endomysial or perivascular infiltrates consisted of 11.1% +/- 6.6% C8(+) cells, 40.6% +/- 22.8% CD4(+) cells, 36.7% +/- 23.7% macrophages, and no B cells. Major histocompatibility complex class I was not upregulated in normal muscle fibers. In young patients with sporadic proximal weakness, very high creatine kinase levels, necrotic fibers and inflammation in the muscle biopsy, a diagnosis of dysferlin myopathy should be considered.

引用

页码：2136 / 2138

页数：3

共 12 条

[1] Dysferlin is a plasma membrane protein and is expressed early in human development [J].

Anderson, LVB ;

Davison, K ;

Moss, JA ;

Young, C ;

Cullen, MJ ;

Walsh, J ;

Johnson, MA ;

Bashir, R ;

Britton, S ;

Keers, S ;

Argov, Z ;

Mahjneh, I ;

Fougerousse, F ;

Beckmann, JS ;

Bushby, KMD .

HUMAN MOLECULAR GENETICS, 1999, 8 (05) :855-861

[2] MONOCLONAL-ANTIBODY ANALYSIS OF MONONUCLEAR-CELLS IN MYOPATHIES .4. CELL-MEDIATED CYTO-TOXICITY AND MUSCLE-FIBER NECROSIS [J].

ARAHATA, K ;

ENGEL, AG .

ANNALS OF NEUROLOGY, 1988, 23 (02) :168-173

[3]

ARAHATA K, 1995, MUSCLE NERVE, pS56

[4] A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B [J].

Bashir, R ;

Britton, S ;

Strachan, T ;

Keers, S ;

Vafiadaki, E ;

Lako, M ;

Richard, I ;

Marchand, S ;

Bourg, N ;

Argov, Z ;

Sadeh, M ;

Mahjneh, I ;

Marconi, G ;

Passos-Bueno, MR ;

Moreira, ED ;

Zatz, M ;

Beckmann, JS ;

Bushby, K .

NATURE GENETICS, 1998, 20 (01) :37-42

[5] Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B [J].

Bittner, RE ;

Anderson, LVB ;

Burkhardt, E ;

Bashir, R ;

Vafiadaki, E ;

Ivanova, S ;

Raffelsberger, T ;

Maerk, I ;

Höger, H ;

Jung, M ;

Karbasiyan, M ;

Storch, M ;

Lassmann, H ;

Moss, JA ;

Davison, K ;

Harrison, R ;

Bushby, KMD ;

Reis, A .

NATURE GENETICS, 1999, 23 (02) :141-142

[6] IMMUNOCYTOCHEMICAL AND VIROLOGICAL CHARACTERISTICS OF HIV-ASSOCIATED INFLAMMATORY MYOPATHIES - SIMILARITIES WITH SERONEGATIVE POLYMYOSITIS [J].

ILLA, I ;

NATH, A ;

DALAKAS, M .

ANNALS OF NEUROLOGY, 1991, 29 (05) :474-481

[7]

Illa I, 2001, ANN NEUROL, V49, P130, DOI 10.1002/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO

[8]

2-0

[9] Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy [J].

Liu, J ;

Aoki, M ;

Illa, I ;

Wu, CY ;

Fardeau, M ;

Angelini, C ;

Serrano, C ;

Urtizberea, JA ;

Hentati, F ;

Ben Hamida, M ;

Bohlega, S ;

Culper, EJ ;

Amato, AA ;

Bossie, K ;

Oeltjen, T ;

Bejaoui, K ;

McKenna-Yasek, D ;

Hosler, BA ;

Schurr, E ;

Arahata, K ;

de Jong, PJ ;

Brown, RH .

NATURE GENETICS, 1998, 20 (01) :31-36

[10]

McNally EM, 2000, AM J MED GENET, V91, P305, DOI 10.1002/(SICI)1096-8628(20000410)91:4<305::AID-AJMG12>3.0.CO

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