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Updated: Jun 13, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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CCDC78:揭示与遗传性肌肉病相关的新基因的功能

Diego Lopergolo1,2, Gian Nicola Gallus1,2, Giuseppe Pieraccini3

  • 1Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.

Cells
|September 14, 2024
PubMed
概括

CCDC78无意义突变通过影响肉质质网膜引起中核肌病-4 (CNM4). 这项研究确定了CCDC78在肌肉中的作用及其与关键SR蛋白的相互作用.

关键词:
CCDC78 疾病预防控制中心中核肌肉病 - 4 中核肌肉病 - 4骨髓病变是一种神经病变.萨科等离子体网膜.

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