【正文】
這可解釋為什么許多 mtDNA 突變的個體早期正常,到一定年齡 發(fā)病,爾后病情加重。 8344 bp Medical Geics Department, WHU Dr. Luo Daji Medical Geics mtDNA缺失突變引起絕大多數(shù)眼肌病 , 這種缺失導(dǎo)致的疾病一般無家族史 。MERRF綜合征以 進行性肌陣攣 、 小腦共濟失調(diào) 和 肌無力 為特征 。 主要有 MERRF綜合征 (癲癇伴碎紅纖維病 ) (MIM 545000)。 11778G→A 導(dǎo)致編碼NADH脫氫酶 亞單位 4(ND4)中 第 340位的 Arg→His , 從而 影響線粒體能量的產(chǎn)生 。 Medical Geics Department, WHU Dr. Luo Daji Medical Geics Leber遺傳性視神經(jīng)病 Medical Geics Department, WHU Dr. Luo Daji Medical Geics Medical Geics Department, WHU Dr. Luo Daji Medical Geics Medical Geics Department, WHU Dr. Luo Daji Medical Geics Medical Geics Department, WHU Dr. Luo Daji Medical Geics Medical Geics Department, WHU Dr. Luo Daji Medical Geics Medical Geics Department, WHU Dr. Luo Daji Medical Geics Medical Geics Department, WHU Dr. Luo Daji Medical Geics Medical Geics Department, WHU Dr. Luo Daji Medical Geics Medical Geics Department, WHU Dr. Luo Daji Medical Geics Medical Geics Department, WHU Dr. Luo Daji Medical Geics Medical Geics Department, WHU Dr. Luo Daji Medical Geics Medical Gei