The phenotype was variable although the genotype was the same in CMT1A patients with PMP22 duplication.

CMT1A病人虽然基因型相同，表现型却存在差异。

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CONCLUSION: Because of the speediness, simpleness and good specificity, the PCR combined with restriction enzyme digestion can be used as a primary screening in the gene diagnosis of CMT1A.

结论：由于PCR -双酶切方法快速、简单、易操作，且特异性好，可作为CMT1A基因诊断的一种初筛方法。

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