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在MPZ中出现的新型主导拼接变异与不寻常的Charcot-Marie-Tooth疾病有关

Anthony Maino1,2, Florence Hazane-Puch1, Philippe Petiot3

  • 1CHU Grenoble Alpes, Laboratoire de Biochimie et Génétique Moléculaire, Grenoble, France.

Journal of the peripheral nervous system : JPNS
|December 9, 2025
PubMed
概括

一种新的髓蛋白零 (MPZ) 基因拼接变体导致了一种非典型的轻度形式的Charcot-Marie-Tooth疾病. 这一发现扩大了对MPZ相关神经病变及其遗传基础的理解.

关键词:
这是一个MPZ.查尔科特·玛丽·牙骨髓P0蛋白质是如何形成的拼接的变种是拼接的变种.

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