病例报告:CLCN1复杂变异突变在15号外体中,发生在具有遗传性肌症的混合犬中
Gabriel Utida Eguchi1, Mariana Isa Poci Palumbo1, Fabrício Moreira Cerri2
1Faculty of Veterinary Medicine and Animal Science, Federal University of Mato Grosso do Sul (UFMS), Campo Grande, MS, Brazil.
Frontiers in veterinary science
|November 19, 2024
概括
一只狗出现了硬的步态和肌肉硬,诊断为遗传性肌. 基因测试揭示了CLCN1基因的新突变,影响了狗肌肉的化物通道功能.
科学领域:
- 兽医神经学 兽医神经学
- 狗的遗传学 狗的遗传学
- 分子生物学分子生物学
背景情况:
- 遗传性肌是一种神经肌肉疾病,在自愿收缩或敲击后肌肉松延迟的特征.
- 人类遗传疾病的狗模型对于了解疾病机制和开发疗法至关重要.
关键词:
化物道化物道出生性肌痛症 (Myotonia) 是一种先天性肌痛症.电神经神经图谱 (electroneuromyography) 是一种电子神经图谱.遗传性疾病是一种遗传性疾病.神经肌肉疾病 神经肌肉疾病更多相关视频
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