Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy
MARCHF6基因中重复扩增并插入少量TTTCA片段会导致家族性肌阵挛，但不伴有癫痫。
期刊:Movement Disorders
影响因子:7.6
doi:10.1002/mds.30192
Kühnel, Theresa; Leitão, Elsa; Lunzer, Renate; Kilpert, Fabian; Kaya, Sabine; Del Gamba, Claudia; Astudillo, Kelly; Frucht, Steven; Simonetta-Moreau, Marion; Bieth, Eric; Unterberger, Iris; Riboldi, Giulietta Maria; Depienne, Christel
