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Updated: Jan 16, 2026

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一种由NAMPT遗传变异引起的感觉和运动神经病变

Zhe Zhang1, Jacek Pilch2, Samuel Lundt2

  • 1Dalton Cardiovascular Research Center (DCRC), University of Missouri, Columbia, MO, USA.

Science advances
|September 26, 2025
PubMed
概括

在NAMPT基因的新型遗传变异导致突变在NAMPT Axonopathy (MINA) 综合征,一种罕见的神经疾病. 这种突变会损害酶活性,导致受影响个体严重的运动和感觉神经病变.

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