Pathogenic Mutations in the C2A Domain of Dysferlin form Amyloid that Activates the Inflammasome. (Updated May 25, 2023).

Pathogenic Mutations in the C2A Domain of Dysferlin form Amyloid that Activates the Inflammasome. "This disease has two known pathogenic missense mutations that occur within the C2A domain, namely C2A-W52R, and C2A-V67D. Amyloid, Biophysics, Peptides and Proteins, Peptides and Proteins - Amyloid, Physics, Proteins. [Extracted from the article]

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