A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis
一种先天性肌营养不良症,伴有线粒体结构异常,由磷脂酰胆碱从头合成缺陷引起。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.05.010
Mitsuhashi, Satomi; Ohkuma, Aya; Talim, Beril; Karahashi, Minako; Koumura, Tomoko; Aoyama, Chieko; Kurihara, Mana; Quinlivan, Ros; Sewry, Caroline; Mitsuhashi, Hiroaki; Goto, Kanako; Koksal, Burcu; Kale, Gulsev; Ikeda, Kazutaka; Taguchi, Ryo; Noguchi, Satoru; Hayashi, Yukiko K; Nonaka, Ikuya; Sher, Roger B; Sugimoto, Hiroyuki; Nakagawa, Yasuhito; Cox, Gregory A; Topaloglu, Haluk; Nishino, Ichizo