One PMP22/MPZ and three MFN2/GDAP1 concomitant variants occurred in a cohort of 189 Chinese Charcot-Marie-Tooth families
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We firstly utilized the application of MLPA (P033 kit, MRC Holland, Netherlands) for the detection of PMP22 duplication in CMT1 patients. Inherited peripheral neuropathy multi-gene panel sequencing was further applied in CMT1 patients who failed to achieve molecular diagnosis and in CMT2 patients.
创建时间：
2022-01-04
