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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Desmin-related myofibrillar myopathy ： ウィキペディア英語版 Desmin-related myofibrillar myopathy Desmin-related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein filaments, instead forming aggregates of desmin and other proteins throughout the cell. ==Pathophysiology== The sarcomeres become misaligned and result in the disorganization of muscle fibers.〔 This mutation also results in muscle cell death by apoptosis and necrosis.〔 The muscle cell may also be disorganized because the aggregates may interrupt other filament structures and/or normal cellular function. Desminopathies are very rare diseases and only 60 patients have been diagnosed with so far, however this number probably does not accurately represent the population due to frequent mis or under diagnosis.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Desmin-related myofibrillar myopathy」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.