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Updated: Jan 10, 2026

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寻找额外的致病变体来解释PMP22相关神经病变的变化

Barbara W van Paassen1, Camiel Verhamme2, Fred van Ruissen3

  • 1Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.

Neurology. Genetics
|November 24, 2025
PubMed
概括

额外的遗传变异不能解释大多数Charcot-Marie-Tooth病1A型 (CMT1A) 和遗传性神经病变,可能导致压力 (HNPP) 严重程度. 建议在严重的CMT1A病例中进行基因查,并确认PMP22变异.

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