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Updated: Apr 13, 2026

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies
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タンパク質分解酵素カルパイン3の変異は,2A型肢帯筋ジストロフィーを引き起こします

I Richard1, O Broux, V Allamand

  • 1Généthon, Evry, France.

Cell
|April 7, 1995
PubMed
まとめ

カルパイン3 (CANP3) 遺伝子の遺伝子変異は,2A型 (LGMD2A) の肢帯筋ジストロフィーを引き起こします. これらの発見は,構造的ではなく,酵素的欠陥が,この筋縮の根底にある可能性があることを示唆しています.

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