Article

Disease-associated mutations in TPM2 alter regulation of actin filament stability and cofilin-dependent dynamics

2026-05-18

Abstract excerpt

Missense mutations in the TPM2 gene encoding skeletal muscle tropomyosin Tpm2.2 cause congenital myopathies associated with hyper and hypocontractile phenotypes. Mutation-dependent defects in thin filament stability and length maintenance may contribute to sarcomere dysfunction. To address this possibility, four disease associated substitutions in Tpm2.2 were analyzed: hypercontractile D20H and E181K, and hypocont...

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Literature Corpus work: 57fb38c6-1f42-5a8d-a1bc-d2732a86d260
DOI: 10.64898/2026.05.15.725491

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