Bird T D, Kraft G H
Clin Genet. 1978 Jul;14(1):43-9. doi: 10.1111/j.1399-0004.1978.tb02059.x.
One hundred and nine individuals from complete sibships at risk for autosomal dominant Charcot-Marie-Tooth (CMT) disease in 15 unrelated families were evaluated by physical examination and motor nerve conduction studies. Penetrance of the gene was 28% in the first decade, but was essentially complete by the middle of the third decade. The average age of onset of symptoms was 12.2 y, with a standard deviation of 7.3. Persons at risk who have no clinical manifestations and who are over age 27 have less than a 3% probability of having inherited the CMT gene.
对来自15个无亲缘关系家庭中患常染色体显性遗传性夏科-马里-图思（CMT）病风险的全同胞家系中的109人进行了体格检查和运动神经传导研究。该基因在第一个十年的外显率为28%，但到第三个十年中期基本完全外显。症状出现的平均年龄为12.2岁，标准差为7.3岁。无临床表现且年龄超过27岁的有患病风险者遗传CMT基因的概率小于3%。
