Eosinophilic myositis as presenting symptom in γ-sarcoglycanopathy

被引：18

作者：

Baumeister, Sarah K. ^{[1
]}

Todorovic, Slobodanka ^{[2
]}

Milic-Rasic, Vedrana ^{[2
]}

Dekomien, Gabriele ^{[3
]}

Lochmueller, Hanns ^{[4
]}

Walter, Maggie C. ^{[1
]}

机构：

[1] Univ Munich, Friedrich Baur Inst, Dept Neurol, D-80336 Munich, Germany

[2] Univ Belgrade, Fac Med, Clin Pediat & Adolescent Neurol & Psychiat, Belgrade 11000, Serbia

[3] Ruhr Univ Bochum, Inst Humangenet, D-44801 Bochum, Germany

[4] Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

来源：

NEUROMUSCULAR DISORDERS | 2009年 / 19卷 / 02期

基金：

英国医学研究理事会;

关键词：

Limb girdle muscular dystrophy; LGMD2C; gamma-Sarcoglycanopathy; Eosinophilic myositis; GIRDLE MUSCULAR-DYSTROPHY; INFLAMMATORY MYOPATHY; MUTATIONS; MUSCLE;

D O I：

10.1016/j.nmd.2008.11.010

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The patient reported here presented with first symptoms at the age of 10 showing an abnormal gait, calf hypertrophy and winged scapulae. She was diagnosed with eosinophilic myositis after muscle biopsy. A second muscle biopsy at the age of 20 and subsequent genetic testing, however, revealed the underlying condition of a primary gamma-sarcoglycanopathy, or LGMD2C. To our knowledge, this is the first LGMD2C patient reported who initially presented with eosinophilic myositis. Eosinophilia has been reported previously in patients with Calpainopathy and Becker Muscular Dystrophy and might be an early, but transient feature of a wider range of muscular dystrophies. (C) 2008 Elsevier B.V. All rights reserved.

引用

页码：167 / 171

页数：5

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