NOVEL VARIANT IN THE ATPASE MODULE OF MORC2 C.71C > A, P.THR24ASN CONSISTENT WITH INFANTILE ONSET CHARCOT-MARIE-TOOTH DISEASE (CMT) TYPE 2Z
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM（2022）
关键词
Charcot-Marie-Tooth disease (CMT), MORC2, exome sequencing, axonal neuropathy, EMG
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