CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.

已完结 10 由 0832 发布于 2026/5/18 22:42:54

DOI:10.1136/jnnp-2025-336590
作者：Alessandro Bertini,?Stefano Facchini,?Ilaria Quartesan,?Riccardo Currò,?Ricardo Parolin Schnekenberg,?Natalia Dominik,?Gustavo Alves,?Lucia Ferullo,?Arianna Tucci,?Henry Houlden,?Mary M Reilly,?Andre
文献类型：期刊论文
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BMJ

Abstract：Background: CGG expansions in NOTCH2NLC and LRP12 were recently identified as a cause of Charcot-Marie-Tooth disease (CMT) in 1.2%-10.6% of genetically undiagnosed patients in China, Taiwan

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