Müller U, Kupke K G
Division of Genetics and Mental Retardation Center, Children's Hospital, Boston, MA 02115.
Hum Genet. 1990 Jan;84(2):107-15. doi: 10.1007/BF00208922.
Primary torsion dystonia is an idiopathic movement disorder presumably caused by abnormal function of the basal ganglia. The disorder may be inherited either as an autosomal dominant, autosomal recessive, or X-linked recessive trait. At least six forms of autosomal dominant torsion dystonia can be distinguished clinically. Linkage analysis in one form of autosomal dominant torsion dystonia permits the assignment of a "torsion dystonia locus" to the long arm of chromosome 9.
原发性扭转性肌张力障碍是一种特发性运动障碍，可能由基底神经节功能异常引起。该疾病可作为常染色体显性、常染色体隐性或X连锁隐性性状遗传。临床上至少可区分出六种常染色体显性扭转性肌张力障碍形式。对一种常染色体显性扭转性肌张力障碍形式进行连锁分析，可将“扭转性肌张力障碍基因座”定位于9号染色体长臂。
