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一种与中心核肌病相关的新型DNM2变异:一个病例报告
Martina Rimoldi1, Daniele Velardo1, Simona Zanotti1
1Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
Frontiers in genetics
|April 22, 2025
概括
动-2 (DNM2) 基因变异导致先天性中心核肌病 (CNM). 在一个患有渐进性肌肉衰弱的患者中,在PH域中发现了一种新的DNM2变异,扩大了DNM2相关肌肉病变的已知遗传原因.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 神经肌肉疾病 神经肌肉疾病
背景情况:
- 动-2 (DNM2) 是一种GTPase,对膜贩运至关重要,包括内细胞分裂.
- DNM2中的单基变体与夏科特-玛丽-图斯病和先天中心核肌病 (CNM) 有关.
- 在CNM中以前的DNM2变体通常表现为轻度,缓慢进展的肌肉衰弱.
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