| 1 | CHKB, MDC1E |
| Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene. | |
| Ríos PG, Kalra AA, Wilson JD, Tanji K, Akman HO, Gómez EA, Schon EA, Dimauro S. | |
| Arch Neurol 69(5):657-61. 2012 | |
| 2 | CHKB, MDC1E |
| A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. | |
| Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I. | |
| Am J Hum Genet 88(6):845-51. 2011 | |
| 3 | CHKB, MDC1E |
| Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy. | |
| Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi YK, Noguchi S, Sher RB, Nakagawa Y, Manfredi G, Goto Y, Cox GA, Nishino I. | |
| Hum Mol Genet 20(19):3841-51. Epub 2011 Jul 12. 2011 | |