A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

✍ Scribed by Satomi Mitsuhashi; Aya Ohkuma; Beril Talim; Minako Karahashi; Tomoko Koumura; Chieko Aoyama; Mana Kurihara; Ros Quinlivan; Caroline Sewry; Hiroaki Mitsuhashi; Kanako Goto; Burcu Koksal; Gulsev Kale; Kazutaka Ikeda; Ryo Taguchi; Satoru Noguchi; Yukiko K. Hayashi; Ikuya Nonaka; Roger B. Sher; Hiroyuki Sugimoto; Yasuhito Nakagawa; Gregory A. Cox; Haluk Topaloglu; Ichizo Nishino

• Book ID: 113423050
• Publisher: American Society of Human Genetics
• Year: 2011
• Tongue: English
• Weight: 644 KB
• Volume: 88
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2011.05.010