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Updated: Jul 20, 2025

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患有可凯恩综合征B型III型的兄弟姐妹呈现缓慢进展的大脑缩症

Nobutaka Takahashi1, Takayasu Mishima1, Shinsuke Fujioka1

  • 1Department of Neurology, Faculty of Medicine, Fukuoka University, Japan.

Internal medicine (Tokyo, Japan)
|August 2, 2023
PubMed
概括

这份报告详细介绍了由ERCC6基因变异鉴定出的III型可凯恩综合征 (CS) 的罕见成年病例. 患者呈现出渐进的听力损失和听力衰竭,强调需要考虑CS在这些症状的成年人.

关键词:
卡卡恩综合征 (CS) B型III型的卡卡恩综合征在ERCC6的病原性变体中,ERCC6是一种病原性变体.大脑小小脑的无氧.

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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