翻訳と辞書 Words near each other ・ Sarcodon portoricensis ・ Sarcodon quercophilus ・ Sarcodon squamosus ・ Sarcodon stereosarcinon ・ Sarcodon umbilicatus ・ Sarcodon underwoodii ・ Sarcodontia ・ Sarcodum ・ Sarcofagi of Carajía ・ Sarcofahrtiopsis ・ Sarcofahrtiopsis spathor ・ Sarcoglanidinae ・ Sarcoglanis simplex ・ Sarcoglottis ・ Sarcoglycan ・ Sarcoglycanopathy ・ Sarcoglyphis ・ Sarcographa ・ Sarcogyne ・ Sarcoid ・ Sarcoidosis ・ Sarcolaena ・ Sarcolaena codonochlamys ・ Sarcolaena delphinensis ・ Sarcolaena eriophora ・ Sarcolaena grandiflora ・ Sarcolaena humbertiana ・ Sarcolaena isaloensis ・ Sarcolaena multiflora ・ Sarcolaena oblongifolia Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Sarcoglycanopathy ： ウィキペディア英語版 Sarcoglycanopathy The sarcoglycanopathies are a collection of diseases resulting from mutations in any of the four sarcoglycan genes: α, β, γ or δ. The four sarcoglycanopathies are: α-sarcoglycanopathy, LGMD2D; β-sarcoglycanopathy, LGMD2E; γ-sarcoglycanopathy, LGMD2C and δ-sarcoglycanopathy, LGMD2F. The four different sarcoglycan genes encode proteins that form a tetrameric complex at the muscle cell plasma membrane. This complex stabilizes the association of dystrophin with the dystroglycans and contributes to the stability of the plasma membrane cytoskeleton. The four sarcoglycan genes are related to each other structurally and functionally, but each has a distinct chromosome location. In outbred populations, the relative frequency of mutations in the four genes is alpha >> beta >> gamma >> delta in an 8:4:2:1 ratio. No common mutations have been identified in outbred populations except the R77C mutation, which accounts for up to one-third of the mutated SGCA alleles. Founder mutations have been observed in certain populations.〔(GeneReviews/NCBI/NIH/UW entry on Limb-Girdle Muscular Dystrophy Overview ) Retrieved 2012-04-09.〕 A 1997 Italian clinical study demonstrated variations in muscular dystrophy progression dependent on the sarcoglycan gene affected. ==References== 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「Sarcoglycanopathy」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.