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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

16 Jun 2023

Abstract excerpt

Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as MYH7, TPM1, and TNNI3 that encode parts of the cardiac sarcomere cause muscle diseases that affect the heart, such as dilated cardiomyopathy and hypertrophic cardiomyopathy. In contrast, pathogenic variants in homologous genes MYH2, TPM2, and TNNI2, that encode...

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PMID: 37457373
DOI: 10.1016/j.xhgg.2023.100213

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