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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 progressive myoclonic epilepsy ： ウィキペディア英語版 Spinal muscular atrophy with progressive myoclonic epilepsy Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy), predominantly affecting distal muscles, combined with denervation and myoclonic seizures. SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the ''ASAH1'' gene and is inherited in an autosomal recessive manner. As with many genetic disorders, there is no known cure to SMA-PME. The condition was first described in 1979 by American researchers Joseph Jankovic and Victor M. Rivera. == See also == * Spinal muscular atrophies * Progressive myoclonus epilepsy 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 progressive myoclonic epilepsy」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.