Kochański A, Drac H, Jedrzejowska H, Hausmanowa-Petrusewicz I
Neuromuscular Unit, Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.
Eur J Neurol. 2003 Sep;10(5):547-9. doi: 10.1046/j.1468-1331.2003.00640.x.
Charcot-Marie-Tooth disease type 1B (CMT1B) is a demyelinating neuropathy inherited as an autosomal dominant trait. The majority of CMT1B cases are caused by mutations in the myelin protein zero (P0) gene (MPZ). Only a few mutations in MPZ gene have been reported to be associated with focally folded myelin sheaths. We have studied five patients from one family with five generations, affected by CMT1B disease. The morphological studies of sural nerve biopsy performed in the proband revealed fibers with focally folded myelin. DNA sequencing analysis showed the Asn131Lys mutation in the MPZ gene in three members of the affected family.
1B型夏科-马里-图斯病（CMT1B）是一种以常染色体显性遗传的脱髓鞘性神经病变。大多数CMT1B病例由髓磷脂蛋白零（P0）基因（MPZ）突变引起。据报道，MPZ基因中只有少数突变与局灶性折叠髓鞘相关。我们研究了一个五代家族中的五名受CMT1B疾病影响的患者。对先证者进行的腓肠神经活检的形态学研究显示有局灶性折叠髓鞘的纤维。DNA测序分析显示，患病家族的三名成员中存在MPZ基因的Asn131Lys突变。
