一个患有异构卵性MYBPC3可能致病的拼接部位变异的患者的CADASIL类脑血管病变

Ehab Harahsheh1, Bukola A Olarewaju2, Deanna M Weaver3

  • 1Department of Neurology, Mayo Clinic, 5777 E Mayo Blvd, Phoenix, AZ, 85054, USA.

Neurogenetics
|November 5, 2025
PubMed
概括

与多变性心肌病 (HCM) 相关的MYBPC3的遗传变化,可以表现为脑内自体主导动脉病变,带有皮下心脏病发作和白细胞大脑病变 (CADASIL) 样的大脑成像特征. 需要进一步的研究来理解这些神经成像在MYBPC3疾病中的发现.

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