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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 Spinal muscular atrophy with lower extremity predominance ： ウィキペディア英語版 Spinal muscular atrophy with lower extremity predominance Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs. The disorder is associated with a genetic mutation in the ''DYNC1H1'' gene (the gene responsible also for one of the axonal types of Charcot–Marie–Tooth disease) and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMA-LED. The condition was first described in a multi-generational family by Walter Timme in 1917. Its linkage to the ''DYNC1H1'' gene was discovered in 2010 by M. B. Harms, et al., who also proposed the current name of the disorder.〔 == See also == Spinal muscular atrophies 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「Spinal muscular atrophy with lower extremity predominance」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.