De Novo 16q12.2 q21 缺失患者的成人起病肌张力障碍和肥厚型心肌病。
关键词: GNAO1 MYBPC3 focal hand dystonia hypertrophic cardiomyopathy
Mesh : Humans Cardiomyopathy, Hypertrophic / genetics complications Dystonia / genetics Chromosome Deletion Adult Chromosomes, Human, Pair 16 / genetics Male Female