Marques W, Hanna M G, Marques S R, Sweeney M G, Thomas P K, Wood N W
Department of Clinical Neurology, Institute of Neurology, London, UK.
J Neurol. 1999 Jul;246(7):596-9. doi: 10.1007/s004150050410.
We have identified a new point mutation in the myelin protein zero (P0) gene in two genetically identical twins with a demyelinating neuropathy. The G to A transition at nucleotide position 382 caused an aspartic acid to asparagine substitution in exon 3. Moreover, we found clear clinical differences which were most evident at an early age. These observations suggest that the expression of this P0 mutation may be susceptible to external, non-genetic influences that may act early in the course of the disease to alter the phenotype.
我们在两名患有脱髓鞘性神经病的基因完全相同的双胞胎中，发现了髓鞘蛋白零（P0）基因的一个新的点突变。核苷酸位置382处的G到A转换导致外显子3中的天冬氨酸被天冬酰胺取代。此外，我们发现了明显的临床差异，这些差异在早年最为明显。这些观察结果表明，这种P0突变的表达可能易受外部非遗传因素的影响，这些因素可能在疾病过程早期起作用，从而改变表型。
