Ionasescu V V
Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242.
Muscle Nerve. 1995 Mar;18(3):267-75. doi: 10.1002/mus.880180302.
Ninety-five families with Charcot-Marie-Tooth (CMT) neuropathies were studied clinically, electrophysiologically (MNCVs and EMGs), and by molecular genetics. Fifty-four families (56.8%) were type 1A mapped at 17p11.2-p12 and DNA duplication was present in 50 (92.6% of CMT1A families). One family with type 1B (1.1%) mapped at 1q22-q23 showed a point mutation of the myelin P0 gene. Eighteen families (18.9%) were type CMT2 based on electrophysiological studies. Molecular genetics was not yet conclusive. Twenty CMT families were with X-linked dominant inheritance (CMTX1) (21.1%) mapped at Xq13.1 and connexin 32 (CX32) point mutations were present in 15 families (75%) (five nonsense mutations, eight missense mutations, two deletions). Two CMT families (2.1%) with X-linked recessive inheritance showed no point mutations of CX32 and their mapping was different from CMTX1, respectively at Xp22.2 for CMTX2 and at Xq26 for CMTX3.
对95个患有夏科-马里-图斯（CMT）神经病的家庭进行了临床、电生理（运动神经传导速度和肌电图）及分子遗传学研究。54个家庭（56.8%）为1A型，定位于17p11.2 - p12，50个家庭（占CMT1A家庭的92.6%）存在DNA重复。1个家庭（1.1%）为1B型，定位于1q22 - q23，显示髓磷脂P0基因点突变。根据电生理研究，18个家庭（18.9%）为CMT2型。分子遗传学研究尚无定论。20个CMT家庭为X连锁显性遗传（CMTX1）（21.1%），定位于Xq13.1，15个家庭（75%）存在连接蛋白32（CX32）点突变（5个无义突变、8个错义突变、2个缺失）。2个具有X连锁隐性遗传的CMT家庭（2.1%）未显示CX32点突变，其定位与CMTX1不同，CMTX2定位于Xp22.2，CMTX3定位于Xq26。
