Kabzińska D, Kochański A, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I
Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
Neuropediatrics. 2005 Jun;36(3):206-9. doi: 10.1055/s-2005-865606.
A recessive demyelinating subtype of Charcot-Marie-Tooth disease called CMT4 is a heterogeneous group of disorders. A relatively frequent form of recessive CMT (CMT4 A) has been mapped to the chromosome 8 q21 and shown to be caused by mutations in the ganglioside-induced differentiation protein 1 (GDAP1) gene. Twenty mutations in the GDAP1 gene have been reported in patients suffering from the axonal and demyelinating forms of CMT disease. In this study we report two novel mutations in the GDAP1 gene in a patient suffering from CMT2 disease and whose parents were asymptomatic carriers of a Ser130Cys and 3'-splice site (311-1G > A) mutation, respectively.
一种名为CMT4的隐性脱髓鞘型夏科-马里-图斯病是一组异质性疾病。隐性CMT（CMT4 A）的一种相对常见形式已被定位到8号染色体q21，并显示由神经节苷脂诱导分化蛋白1（GDAP1）基因突变引起。在患有轴索性和脱髓鞘型CMT疾病的患者中，已报道了GDAP1基因的20种突变。在本研究中，我们报告了一名患有CMT2疾病患者的GDAP1基因中的两种新突变，其父母分别是Ser130Cys和3'-剪接位点（311-1G > A）突变的无症状携带者。
