Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations
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- 作者：J. Svahna ; juliette.svahn@chu-lyon.fr" class="auth_mail" title="E-mail the corresponding author ; N. Streichenbergerb ; O. Benvenistec ; d ; R. Menassae ; L. Michele ; H. Fayollef ; P. Petiota
- 关键词：Necrotizing myopathy ; Muscular dystrophy ; LGMD2I ; FKRP mutations ; Corticosteroid
- 刊名：Neuromuscular Disorders
- 出版年：2015
- 出版时间：November 2015
- 年：2015
- 卷：25
- 期：11
- 页码：865-868
- 全文大小：1417 K
文摘
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Necrotizing myopathies can be encountered in acquired myopathies or muscular dystrophies.
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The clinical presentation of our patient was initially suggestive of an inflammatory myopathy.
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She presented significant but partial clinical improvement after corticosteroid and immune therapies.
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Additional investigations finally led to a diagnosis of limb-girdle muscular dystrophy 2I.
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This observation highlights diagnostic difficulties and implications of corticosteroid treatment in patients with LGMD2I.