Ionasescu V V, Ionasescu R, Searby C
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242.
Muscle Nerve. 1993 Nov;16(11):1232-8. doi: 10.1002/mus.880161114.
Sixty-three families with dominantly inherited Charcot-Marie-Tooth (CMT) neuropathies including 730 subjects (total) from which 356 affected were studied clinically, electrophysiologically (MNCVs and EMGs), by genetic linkage, and screened for DNA duplication. Thirty-eight families (60.3%) were type 1A (demyelinating CMT mapped on chromosome 17). DNA duplication was present in 36 families (94.8% of CMT1A families). One CMT1A family (2.6%) showed no duplication but suggested genetic linkage with markers of chromosome 17. One CMT1A family (2.6%) revealed nonduplication in some affected members and duplication in other affected members. The disease in that family segregated with the same chromosome 17 markers regardless of duplication status. The other CMT families with dominant inheritance but without duplication included one family with CMT1B (demyelinating CMT mapped on chromosome 1) (1.6%), 14 families with CMT2 axonal neuropathy (22.2%), and 10 families with X-linked dominant CMT (15.9%).
63个患有显性遗传性夏科-马里-图斯（CMT）神经病的家族，共730名受试者（总计），其中356名患者接受了临床、电生理（运动神经传导速度和肌电图）、基因连锁分析研究，并进行了DNA重复筛查。38个家族（60.3%）为1A型（脱髓鞘型CMT，定位于17号染色体）。36个家族（占CMT1A家族的94.8%）存在DNA重复。1个CMT1A家族（2.6%）未显示重复，但提示与17号染色体标记存在基因连锁。1个CMT1A家族（2.6%）部分患病成员未出现重复，而其他患病成员出现重复。该家族中的疾病无论重复状态如何，均与相同的17号染色体标记分离。其他具有显性遗传但无重复的CMT家族包括1个CMT1B家族（脱髓鞘型CMT，定位于1号染色体）（1.6%）、14个CMT2轴索性神经病家族（22.2%）和10个X连锁显性CMT家族（15.9%）。
