Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

被引：66

作者：

Claeys, K. G. ^{[1
]}

Fardeau, M.

Schroeder, R. ^{[2
]}

Suominen, T. ^{[3
]}

Tolksdorf, K. ^{[4
]}

Behin, A. ^{[1
]}

Dubourg, O. ^{[1
,5
]}

Eymard, B. ^{[1
,6
]}

Maisonobe, T. ^{[5
]}

Stojkovic, T. ^{[1
]}

Faulkner, G. ^{[7
]}

Richard, P. ^{[8
]}

Vicart, P. ^{[9
]}

Udd, B. ^{[10
,11
,12
,13
]}

Voit, T. ^{[1
,6
]}

Stoltenburg, G.

机构：

[1] Grp Hosp Pitie Salpetriere, Inst Myol, Ctr Reference Neuromusculaire Paris Est, F-75651 Paris 13, France

[2] Univ Klinikum Erlangen, Inst Neuropathol, Erlangen, Germany

[3] Univ Tampere, Dept Med, FIN-33101 Tampere, Finland

[4] Univ Hosp Bonn, Dept Neurol, Bonn, Germany

[5] Grp Hosp Pitie Salpetriere, Serv Neuropathol, F-75651 Paris 13, France

[6] Univ Paris 06, Paris, France

[7] Int Ctr Genet Engn & Biotechnol, Muscle Mol Biol Grp, I-34012 Trieste, Italy

[8] Grp Hosp Pitie Salpetriere, Serv Biochim B, Unite Fonctionnelle Cardiogenet & Myogenet, F-75651 Paris 13, France

[9] Univ Paris 07, UFR Biochim, EA Stress & Pathol Cytosequelette 300, Paris, France

[10] Univ Helsinki, Folkhalsan Inst Genet, FIN-00014 Helsinki, Finland

[11] Vasa Cent Hosp, Dept Neurol, Vaasa, Finland

[12] Tampere Univ Hosp, Dept Neurol, Tampere, Finland

[13] Sch Med, Tampere, Finland

来源：

NEUROMUSCULAR DISORDERS | 2008年 / 18卷 / 08期

关键词：

MFM; EM; ultrastructural; genetic analysis; diagnosis;

D O I：

10.1016/j.nmd.2008.06.367

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We studied the ultrastructural characteristics in patients with myofibrillar myopathy (MFM) and differentiated between MFM-subtypes using electron microscopic (EM) findings. The ultrastructural findings in 19 patients with different genetically proven MFMs (9 desmin, 5 alpha B-crystallin, 3 ZASP, 2 myotilin) were analyzed. In one ZASPopathy, we additionally performed an immunoEM study, using antibodies against desumin, alpha B-crystallin, ZASP and myotilin. The ultrastructural findings in desminopathies and alpha B-crystallinopathies were very similar and consisted of electrondense granulofilamentous accumulations and sandwich formations. They differed in the obvious presence of early apoptotic nuclear changes in alpha B-crystallinopathies. ZASPopathies were characterized by filamentous bundles (labeled with the myotilin antibody on immunoEM), and floccular accumulations of thin filamentous material. Tubulofilamentous inclusions in sarcoplasm and myonuclei in combination with filamentous bundles were characteristic for myotilinopathies. We conclude that MFMS Ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs. (C) 2008 Elsevier B.V. All rights reserved.

引用

页码：656 / 666

页数：11

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