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Updated: Jan 11, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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在Titin Exon 363中出现了新的突变,具有不同的表型,包括东欧的创始突变

Veronica Sian1,2, Maria Francesca Di Feo1,2,3, Sergei Kurbatov4,5

  • 1Folkhälsan Research Center, Helsinki, Finland.

European journal of neurology
|November 17, 2025
PubMed
概括

在TTN外因子363中,截断变异会引起滴病,导致幼发远部肌肉病. 现型的严重程度取决于第二个变体的严重程度.

关键词:
在M频段,M频段是M频段.生产性肌肉病变 (congenital myopathy) 是一种先天性肌肉病变.创始人突变 创始人突变衰退的远端肌肉病变 (recessive distal myopathy) 是一种衰退的远端肌肉病变.这就是Titin Titin.

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